Allele Registry

Canonical Allele Identifier: PA2827127172

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000165917

RCV000415672

RCV000480451

RCV000531904

ClinVar Variation:

186338

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Leu378Val	CA010085 NM_001322010.2:c.1132T>G