Allele Registry

Canonical Allele Identifier: PA2830501030

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000594805

RCV001485099

ClinVar Variation:

496988

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Arg2017Gln	CA4926132 NM_201383.3:c.6050G>A