ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645509933
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439191
ClinVar RCV Id:
RCV000507559
RCV001219215
RCV001250042
RCV002431464
RCV003449448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser743Leu
CA346729718
NM_000251.3:c.2228C>T