Allele Registry

Canonical Allele Identifier: PA2827127692

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000708732

RCV001861933

ClinVar Variation:

584544

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Ala515Thr	CA366737988 NM_001322010.2:c.1543G>A