Allele Registry

Canonical Allele Identifier: PA2827125111

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000485467

RCV002420234

ClinVar Variation:

422283

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Thr568Lys	CA16618491 NM_001322009.2:c.1703C>A