ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472008
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246341
ClinVar RCV Id:
RCV000236679
RCV000562875
RCV001040201
RCV003463701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu251Lys
CA040269
NM_000251.3:c.751G>A