Allele Registry

Canonical Allele Identifier: PA2827101543

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000172908

RCV000630142

RCV001179765

RCV001284205

RCV001804905

RCV003454446

ClinVar Variation:

192316

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Ile533Val	CA358701 NM_001322003.2:c.1597A>G