Allele Registry

Canonical Allele Identifier: PA112847

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.8686190332

Score -1.3926384448

Score -3.910597614

Linked Data - NCBI & NCI

ClinVar Allele:

32733

ClinVar RCV:

RCV000019264

RCV000048931

RCV000131375

RCV000167787

RCV001170589

RCV004554608

ClinVar Variation:

17694

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Met1775Arg	CA003478 NM_007294.4:c.5324T>G