ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139674311
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
933831
ClinVar RCV Id:
RCV001202124
RCV003158454
RCV003493819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Met1373Arg
CA6940750
NM_000059.4:c.4118T>G