Allele Registry

Canonical Allele Identifier: PA327730

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -2.1978281236

Score -2.4768418633

Score -3.7593075259

Score 4

Score -2.9513895228

Score -1.571413543

Score -1.1453848138

Linked Data - NCBI & NCI

ClinVar Allele:

68859

ClinVar RCV:

RCV000577049

RCV001077010

RCV001385108

ClinVar Variation:

54192

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Cys44Arg	CA000855 NM_007294.4:c.130T>C