ClinVar archives reports of relationships among medically important variants and phenotypes. It records human variation, interpretations of the relationship specific variations to human health, and supporting evidence for each interpretation. Each ClinVar record (RCV identifier) represents an aggregated view of interpretations of the same variation and condition from one or more submitters (Submitter IDs). Submissions for individual variation/phenotype combinations (SCV identifier) are also collected and made available separately. This collection references submitters (submitter ids) that submit the submissions (SCVs).

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Pattern for Local Unique Identifiers

Local identifiers in ClinVar Submitter should match this regular expression:

Example Local Unique Identifier
26957   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ClinVar Submitter should match this regular expression:

Example CURIE
Metaregistry ClinVar Submitter

The metaregistry provides mappings between the Bioregistry and other registries. There are 1 mappings to external registries for this resource with 1 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate logo miriam clinvar.submitter

Providers are various services that resolve CURIEs to URLs. The example CURIE None:26957 is used to demonstrate the provides available for this resource. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
ClinVar Submitter clinvar.submitter
Bioregistry bioregistry miriam