Canonical Allele Identifier: PA2827121586
Gene: PMS2 HGNC NCBI
ClinVar RCV:
RCV000566001
ClinVar Variation:
484328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Gly751Arg
CA048891
NM_001322008.2:c.2251G>C