Allele Registry

Canonical Allele Identifier: PA2827135975

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000206547

RCV000217628

RCV000519330

RCV001774938

RCV001868689

ClinVar Variation:

220502

1316566

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Gly409Arg	CA350571 NM_001322014.1:c.1225G>C CA366742532 NM_001322014.1:c.1225G>A