Allele Registry

Canonical Allele Identifier: PA187242

Gene: BRCA1 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.1499202644

Score 0.0975471378

Score -0.3610514916

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000112579

RCV000148392

RCV000162992

RCV000168520

RCV000759558

RCV001085532

RCV001270285

ClinVar Variation:

55481

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Arg1751Gln	CA003390 NM_007294.4:c.5252G>A