Allele Registry

Canonical Allele Identifier: PA2827118855

Gene: PMS2 HGNC NCBI

ClinVar Allele:

182727

ClinVar RCV:

RCV000165917

RCV000415672

RCV000480451

RCV000531904

ClinVar Variation:

186338

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Leu459Val	CA010085 NM_001322007.2:c.1375T>G