Allele Registry

Canonical Allele Identifier: PA2827119949

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000217218

RCV000222472

RCV000530024

RCV000764718

RCV001249991

ClinVar Variation:

230486

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Ala748Thr	CA048880 NM_001322007.2:c.2242G>A