Allele Registry

Canonical Allele Identifier: PA916025937

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000574646

RCV000695347

RCV004000908

ClinVar Variation:

480940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Val549Gly	CA044980 NM_001322014.1:c.1646T>G