ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579915394
Gene: MSH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln397Lys
CA346733877
NM_000251.3:c.1189C>A