Allele Registry

Canonical Allele Identifier: PA2827127691

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000572565

RCV002528152

ClinVar Variation:

484259

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Ala515Ser	CA366737987 NM_001322010.2:c.1543G>T