Allele Registry

Canonical Allele Identifier: PA2827126589

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000461212

RCV001186458

RCV001193251

RCV001548440

RCV004001878

ClinVar Variation:

411052

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Ile230Leu	CA16612223 NM_001322010.2:c.688A>C