Allele Registry

Canonical Allele Identifier: PA2827138453

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000164553

RCV000229601

RCV003995348

ClinVar Variation:

185184

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Lys474Glu	CA010180 NM_001322015.1:c.1420A>G