Allele Registry

Canonical Allele Identifier: PA2827124217

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000034616

RCV000076810

RCV000079104

RCV000130906

RCV000625385

RCV001081087

RCV001353499

ClinVar Variation:

41702

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Thr350Lys	CA009697 NM_001322009.2:c.1049C>A