Allele Registry

Canonical Allele Identifier: PA2830501816

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000314788

RCV000554534

RCV000725362

ClinVar Variation:

283947

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Arg2693His	CA4925429 NM_201383.3:c.8078G>A