Canonical Allele Identifier: PA915999418
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54853
ClinVar RCV Id: RCV000112076 RCV000218827 RCV000779859 RCV001561298 RCV001319129 RCV004554659
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009231.2:p.Val1116Leu
CA002167
NM_007300.4:c.3346G>C
CA10595282
NM_007300.4:c.3346G>T