Allele Registry

Canonical Allele Identifier: PA2827125552

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000076859

RCV000130249

RCV000485694

RCV000525929

RCV000764719

RCV001193971

RCV003452993

ClinVar Variation:

91343

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Ser691Leu	CA011500 NM_001322009.2:c.2072C>T