Allele Registry

Canonical Allele Identifier: PA2827130221

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000076859

RCV000130249

RCV000485694

RCV000525929

RCV000764719

RCV001193971

RCV003452993

ClinVar Variation:

91343

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Ser504Leu	CA011500 NM_001322011.2:c.1511C>T