Allele Registry

Canonical Allele Identifier: PA2827106138

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000218301

RCV000687861

RCV000987832

ClinVar Variation:

234077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Arg316Lys	CA10578679 NM_001322004.2:c.947G>A