Allele Registry

Canonical Allele Identifier: PA2827132681

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000130331

RCV000206806

RCV000222996

RCV001193814

RCV003460921

ClinVar Variation:

141713

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Val130Ile	CA013376 NM_001322013.1:c.388G>A