Allele Registry

Canonical Allele Identifier: PA2827131170

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000555211

RCV000574607

RCV003231641

RCV004003760

ClinVar Variation:

455666

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Cys249Tyr	CA045087 NM_001322012.1:c.746G>A