Allele Registry

Canonical Allele Identifier: PA2827116530

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000164743

RCV000206423

RCV000410095

RCV000486892

RCV000761045

RCV000781746

RCV001358129

ClinVar Variation:

185339

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Ala673Val	CA010984 NM_001322006.2:c.2018C>T