Allele Registry

Canonical Allele Identifier: PA2827134131

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000572565

RCV002528152

ClinVar Variation:

484259

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Ala511Ser	CA366737987 NM_001322013.1:c.1531G>T