Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Canonical Allele Identifier: PA2580366199

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2061699

ClinVar RCV Id: RCV002952875 RCV003157836

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Lys996Asn	CA10596020 NM_007300.4:c.2988A>T CA10596021 NM_007300.4:c.2988A>C