Allele Registry

Canonical Allele Identifier: PA2827127231

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000166892

RCV000232525

RCV000482685

RCV000780626

RCV003462228

ClinVar Variation:

187190

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Arg391Ser	CA010189 NM_001322010.2:c.1171C>A