Allele Registry

Canonical Allele Identifier: PA2827115944

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000210189

RCV000217199

RCV000479827

RCV000524444

RCV003468975

RCV003493511

ClinVar Variation:

224585

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Pro516Arg	CA357814 NM_001322006.2:c.1547C>G