Allele Registry

Canonical Allele Identifier: PA2827101237

Gene: PMS2 HGNC NCBI

ClinVar Allele:

133224

ClinVar RCV:

RCV000115667

RCV000214212

RCV000559426

RCV001420821

RCV003997287

ClinVar Variation:

127767

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Arg493Gln	CA010408 NM_001322003.2:c.1478G>A