Allele Registry

Canonical Allele Identifier: PA187274

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -1.6270694532

Score -1.9554176918

Score -2.077420101

Linked Data - NCBI & NCI

ClinVar Allele:

46181

ClinVar RCV:

RCV000031206

RCV000048755

RCV000163023

RCV001588834

RCV004554632

ClinVar Variation:

37625

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Met1689Arg	CA003182 NM_007294.4:c.5066T>G