URL: http://www.ncbi.nlm.nih.gov/clinvar/
Proper Citation: ClinVar (RRID:SCR_006169)
Description: Archive of aggregated information about sequence variation and its relationship to human health. Provides reports of relationships among human variations and phenotypes along with supporting evidence. Submissions from clinical testing labs, research labs, locus-specific databases, expert panels and professional societies are welcome. Collects reports of variants found in patient samples, assertions made regarding their clinical significance, information about submitter, and other supporting data. Alleles described in submissions are mapped to reference sequences, and reported according to HGVS standard.
Abbreviations: ClinVar
Resource Type: service resource, data or information resource, storage service resource, database, data repository
Keywords: sequence variation, variation, phenotype, genetics, genetic variation, clinical, allele, aggregator, geneotype, gene, disease, clinical assertion, bio.tools
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