Canonical Allele Identifier: PA891864839
Gene: PMS2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000526.2:p.Lys647Ter
NM_000535.7:c.[1938del;1940A>T;1942T>A]

NM_000535.7:c.1939A>T