Allele Registry

Canonical Allele Identifier: PA2830500801

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000546115

RCV001561642

ClinVar Variation:

471608

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Ala1840Val	CA4926342 NM_201383.3:c.5519C>T