Allele Registry

Canonical Allele Identifier: PA2830486243

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000518817

RCV000648520

RCV000730507

RCV002252149

ClinVar Variation:

448078

HGVS (amino-acid)	Matching Registered Transcripts
NP_958781.1:p.Arg2750His	CA4925363 NM_201379.3:c.8249G>A