Allele Registry

Canonical Allele Identifier: PA2827126427

Gene: PMS2 HGNC NCBI

ClinVar Allele:

151427

ClinVar RCV:

RCV000130331

RCV000206806

RCV000222996

RCV001193814

RCV003460921

ClinVar Variation:

141713

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Val186Ile	CA013376 NM_001322010.2:c.556G>A