ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056474
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000589864
RCV001054194
RCV001525794
ClinVar Variation:
495436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Cys647Arg
CA387768352
NM_000059.4:c.1939T>C