ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573055615
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51125
ClinVar RCV Id:
RCV000112922
RCV000509786
RCV001365914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ala483Thr
CA012073
NM_000059.4:c.1447G>A