Allele Registry

Canonical Allele Identifier: PA2827112690

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000574646

RCV000695347

RCV004000908

ClinVar Variation:

480940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308934.1:p.Val414Gly	CA044980 NM_001322005.2:c.1241T>G