Allele Registry

Canonical Allele Identifier: PA2827114088

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000205693

RCV000575149

RCV000662464

RCV001193970

RCV003153480

RCV003997581

ClinVar Variation:

219785

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Leu47Val	CA043361 NM_001322006.2:c.139C>G