Allele Registry

Canonical Allele Identifier: PA2579758028

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.0738831641

Score 0.1833892821

Score -0.5119592652

Score -0.2913238092

Score -0.1098047869

Score -0.7417682544

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001076057

RCV001076058

ClinVar Variation:

867380

867381

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.His1805Gln	CA10590629 NM_007294.4:c.5415C>G CA10590631 NM_007294.4:c.5415C>A