Allele Registry

Canonical Allele Identifier: PA2827127558

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_001308939.1:p.Ile481Val	CA358701 NM_001322010.2:c.1441A>G