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: PA2829693963

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 441310

ClinVar RCV Id: RCV000510084 RCV002524948

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Leu1293Phe	CA10593918 NM_007297.4:c.3879G>T CA10593919 NM_007297.4:c.3879G>C