ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139678299
Gene: MSH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val435Phe
CA346724559
NM_000251.3:c.1303G>T