Allele Registry

Canonical Allele Identifier: PA2830479498

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000518817

RCV000648520

RCV000730507

RCV002252149

ClinVar Variation:

448078

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Arg2758His	CA4925363 NM_201378.4:c.8273G>A