Allele Registry

Canonical Allele Identifier: PA891864451

Gene: PMS2 HGNC NCBI

ClinVar Allele:

151427

ClinVar RCV:

RCV000130331

RCV000206806

RCV000222996

RCV001193814

RCV003460921

ClinVar Variation:

141713

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Val321Ile	CA013376 NM_000535.7:c.961G>A