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14 datasets found
  • Federal

    Database of Short Genetic Variations (dbSNP)

    U.S. Department of Health & Human Services —

    Database of Short Genetic Variations (dbSNP) contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with...
  • Federal

    Genetic Testing Registry (GTR)

    U.S. Department of Health & Human Services —

    Genetic Testing Registry (GTR) is a free, centralized voluntary registry of comprehensive genetic test information covering clinical and research tests for Mendelian...
  • Federal

    MedGen

    U.S. Department of Health & Human Services —

    MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. Terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO,...
  • Federal

    GenBank

    U.S. Department of Health & Human Services —

    NIH Genetic sequence database; an annotated collection of all publicly available DNA sequences.
  • Federal

    Database of Genotype and Phenotype (dbGaP)

    U.S. Department of Health & Human Services —

    Database of Genotype and Phenotype (dbGaP) was developed to archive and distribute the data and results from studies that have investigated the interaction of...
  • Federal

    OMIM (Online Mendelian Inheritance in Man)

    U.S. Department of Health & Human Services —

    Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes.
  • Federal

    Consensus CDS (CCDS)

    U.S. Department of Health & Human Services —

    The Consensus CDS (CCDS) project is a collaborative effort to identify a core set of human and mouse protein coding regions that are consistently annotated and of...
  • Federal

    PopSet

    U.S. Department of Health & Human Services —

    The PopSet database is a collection of related DNA sequences derived from population, phylogenetic, mutation and ecosystem studies that have been submitted to GenBank.
  • Federal

    RefSeq: NCBI Reference Sequence Database

    U.S. Department of Health & Human Services —

    A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.
  • Federal

    Phenotype-Genotype Integrator (PheGenI)

    U.S. Department of Health & Human Services —

    Supports finding human phenotype/genotype relationships with queries by phenotype, chromosome location, gene, and SNP identifiers. Currently includes information from...
  • Federal

    Sequence Read Archive (SRA)

    U.S. Department of Health & Human Services —

    The Sequence Read Archive (SRA) stores sequencing data from the next generation of sequencing platforms including Roche 454 GS System®, Illumina Genome Analyzer®,...
  • Federal

    SPDI Variation Service

    U.S. Department of Health & Human Services —

    This genetic variation services interconvert and transform short genetic variants between HGVS expressions, VCF format, and the new SPDI (Sequence Position Deletion...
  • Federal

    The human genome revolution or evolution?

    U.S. Department of Health & Human Services —

    The human genome revolution or evolution?
  • Federal

    Database of Genomic Structural Variation (dbVar)

    U.S. Department of Health & Human Services —

    Database of Genomic Structural Variation (dbVar) is NCBI's database of human genomic Structural Variation — large variants >50 bp including insertions, deletions,...
14 datasets found

You can also access this registry using the API (see API Docs).

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