Canonical Allele Identifier: PA1139676193
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142783
ClinVar RCV Id: RCV000132192 RCV000239058 RCV000505841 RCV000637755 RCV004532578 RCV003477559
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000050.3:p.Ser1743Asn
CA021793
NM_000059.4:c.5228G>A