ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057680
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52321
ClinVar RCV Id:
RCV000045201
RCV000114112
RCV000220097
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ile247Thr
CA025060
NM_000059.4:c.740T>C