Allele Registry

Canonical Allele Identifier: PA2827098974

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002047937

RCV002458980

ClinVar Variation:

1504952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Gly247Arg	CA042158 NM_001322003.2:c.739G>C