Allele Registry

Canonical Allele Identifier: PA2827112310

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000472222

RCV000574931

RCV004001882

ClinVar Variation:

411076

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308934.1:p.Leu319Pro	CA043156 NM_001322005.2:c.956T>C