Allele Registry

Canonical Allele Identifier: PA196989

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -2.3373773567

Score -2.2950325873

Score -2.5421885143

Score -5.0597343128

Score -4.6120184857

Linked Data - NCBI & NCI

ClinVar Allele:

68867

ClinVar RCV:

RCV000077487

RCV000166901

RCV000434130

RCV000496386

RCV000735465

RCV000763011

ClinVar Variation:

54200

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Cys44Phe	CA000862 NM_007294.4:c.131G>T