Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA915992291

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 240787

ClinVar RCV Id: RCV000228849 RCV002321882

ClinVar Variation Id: 652188

ClinVar RCV Id: RCV000807696 RCV003158193

ClinVar Variation Id: 1727896

ClinVar RCV Id: RCV002320528

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Ser995Arg	CA10583568 NM_007297.4:c.2985C>G CA10595733 NM_007297.4:c.2985C>A CA10595738 NM_007297.4:c.2983A>C