Allele Registry

Canonical Allele Identifier: PA2825174313

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000594805

RCV001485099

ClinVar Variation:

496988

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Arg2040Gln	CA4926132 NM_000445.4:c.6119G>A