Allele Registry

Canonical Allele Identifier: PA916025723

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000461212

RCV001186458

RCV001193251

RCV001548440

RCV004001878

ClinVar Variation:

411052

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Ile417Leu	CA16612223 NM_001322014.1:c.1249A>C