Canonical Allele Identifier: PA165311
Gene: PMS2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000526.1:p.Arg563Gln
NM_000535.5:c.1688G>A

NM_000535.5:c.1688_1689delinsAG