Allele Registry

Canonical Allele Identifier: PA2827130639

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000164844

RCV000206128

RCV000433523

RCV000987833

RCV001358227

RCV002485018

ClinVar Variation:

185424

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Arg116His	CA009478 NM_001322012.1:c.347G>A