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.
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Canonical Allele Identifier: PA916000612

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489720

ClinVar RCV Id: RCV000580884 RCV004525978

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Glu1357Asp	CA10593816 NM_007300.4:c.4071A>T CA10593817 NM_007300.4:c.4071A>C