Canonical Allele Identifier: PA2573057759
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 96771
ClinVar RCV Id: RCV000082892 RCV000167234 RCV000219220 RCV001219311
ClinVar Variation Id: 219900
ClinVar RCV Id: RCV000204513 RCV000772141 RCV001706189 RCV002285279
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000050.3:p.Ile594Leu
CA013194
NM_000059.4:c.1780A>C
CA348739
NM_000059.4:c.1780A>T