Allele Registry

Canonical Allele Identifier: PA2827112293

Gene: PMS2 HGNC NCBI

ClinVar Allele:

233527

ClinVar RCV:

RCV000218301

RCV000687861

RCV000987832

ClinVar Variation:

234077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308934.1:p.Arg316Lys	CA10578679 NM_001322005.2:c.947G>A