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
^\d{1,2}\-\d+\-[GATC]\-[GATC]$
Namespace in Pattern
False
Example Identifier
22-46615880-T-C   Resolve
Metaregistry

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

Registry Name Metaprefix Metaidentifier
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 URL
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