Allele Registry

Canonical Allele Identifier: PA2827131572

Gene: PMS2 HGNC NCBI

ClinVar Allele:

190109

ClinVar RCV:

RCV000172908

RCV000630142

RCV001179765

RCV001284205

RCV001804905

RCV003454446

ClinVar Variation:

192316

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Ile357Val	CA358701 NM_001322012.1:c.1069A>G