Allele Registry

Canonical Allele Identifier: PA2830504068

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000591157

RCV002062088

ClinVar Variation:

501788

HGVS (amino-acid)	Matching Registered Transcripts
NP_958786.1:p.Glu516Lys	CA4927928 NM_201384.3:c.1546G>A