Allele Registry

Canonical Allele Identifier: PA2827133780

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000168042

RCV000482215

RCV000562276

RCV003995603

ClinVar Variation:

188154

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Val416Ile	CA010297 NM_001322013.1:c.1246G>A