Allele Registry

Canonical Allele Identifier: PA2827122927

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000115710

RCV000469956

RCV000656943

RCV001093686

RCV003460827

RCV003997295

ClinVar Variation:

127801

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Val171Met	CA013247 NM_001322009.2:c.511G>A