Allele Registry

Canonical Allele Identifier: PA2827131168

Gene: PMS2 HGNC NCBI

ClinVar Allele:

396358

ClinVar RCV:

RCV000471818

RCV001012607

RCV003227761

RCV004001876

ClinVar Variation:

411046

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Gly248Arg	CA045058 NM_001322012.1:c.742G>A CA366741251 NM_001322012.1:c.742G>C