Allele Registry

Canonical Allele Identifier: PA260714

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -1.2593615428

Score -1.1553805449

Score -1.3964624899

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000031209

RCV000048762

RCV000508659

RCV000509720

RCV001171419

RCV002247402

RCV004554633

ClinVar Variation:

37628

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Thr1691Ile	CA003190 NM_007294.4:c.5072C>T