ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057723
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51130
ClinVar RCV Id:
RCV000043813
RCV000112925
RCV001011706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ile488Arg
CA012142
NM_000059.4:c.1463T>G