Allele Registry

Canonical Allele Identifier: PA2827127225

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000164553

RCV000229601

RCV003995348

ClinVar Variation:

185184

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Lys390Glu	CA010180 NM_001322010.2:c.1168A>G