ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056845
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187583
ClinVar RCV Id:
RCV000167323
RCV000758856
RCV001201830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Gln347Pro
CA010632
NM_000059.4:c.1040A>C