ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913193064
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
631369
ClinVar RCV Id:
RCV000777558
RCV001856149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Lys248Gln
CA346732278
NM_000251.3:c.742A>C