Allele Registry

Canonical Allele Identifier: PA2827116446

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000708732

RCV001861933

ClinVar Variation:

584544

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Ala650Thr	CA366737988 NM_001322006.2:c.1948G>A