The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data pertains to unrelated individuals sequenced as part of various disease-specific and population genetic studies and serves as a reference set of allele frequencies for severe disease studies. This collection references variant information.

Prefix
exac.variant
Links
Homepage
Contact
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in ExAC Variant should match this regular expression:
^\d{1,2}\-\d+\-[GATC]\-[GATC]$

Example Local Unique Identifier
22-46615880-T-C   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ExAC Variant should match this regular expression:
^exac.variant:\d{1,2}\-\d+\-[GATC]\-[GATC]$

Example CURIE
exac.variant:22-46615880-T-C
Metaregistry

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for exac.variant.

Registry Name Metaprefix External Prefix
Identifiers.org miriam exac.variant
Name-to-Thing n2t exac.variant
Prefix Commons prefixcommons EXAC.VARIANT
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE exac.variant:22-46615880-T-C is used to demonstrate the provides available for exac.variant. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
ExAC Variant exac.variant http://exac.broadinstitute.org/variant/22-46615880-T-C
Bioregistry bioregistry https://bioregistry.io/exac.variant:22-46615880-T-C
Identifiers.org miriam https://identifiers.org/exac.variant:22-46615880-T-C
Name-to-Thing n2t https://n2t.net/exac.variant:22-46615880-T-C