Allele Registry

Canonical Allele Identifier: PA916025413

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000130089

RCV000411073

RCV000486746

RCV001079273

RCV002265615

RCV003997548

ClinVar Variation:

141523

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Gln84Glu	CA012928 NM_001322013.1:c.250C>G