ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056471
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479311
ClinVar RCV Id:
RCV000575462
RCV000759583
RCV000814757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Cys647Tyr
CA387768359
NM_000059.4:c.1940G>A