Canonical Allele Identifier: PA2573059282
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51513
ClinVar RCV Id: RCV000113212 RCV001852936 RCV003156762
ClinVar Variation Id: 1809548
ClinVar RCV Id: RCV002481127 RCV003157206 RCV003530271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000050.3:p.Ser1248Arg
CA018688
NM_000059.4:c.3742A>C
CA387778159
NM_000059.4:c.3744T>A
CA387778160
NM_000059.4:c.3744T>G