Allele Registry

Canonical Allele Identifier: PA2827122033

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000167249

RCV000233931

RCV000410857

RCV000512735

RCV000722125

RCV000758686

RCV003927555

ClinVar Variation:

187514

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Arg64Cys	CA012356 NM_001322009.2:c.190C>T