Allele Registry

Canonical Allele Identifier: PA658710258

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.3775509236

Score -0.4507536451

Score -0.4280555472

Linked Data - NCBI & NCI

ClinVar Allele:

487931

ClinVar RCV:

RCV000590708

RCV000691407

RCV001024228

RCV001076359

ClinVar Variation:

496396

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Ala1843Val	CA10590262 NM_007294.4:c.5528C>T