Allele Registry

Canonical Allele Identifier: PA2830500538

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000527679

RCV000725097

RCV002518856

ClinVar Variation:

282493

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Glu1623Lys	CA4926521 NM_201383.3:c.4867G>A