Allele Registry

Canonical Allele Identifier: PA244005

Gene: PLEC HGNC NCBI

ClinVar Allele:

193913

ClinVar RCV:

RCV000554395

RCV000724990

RCV002517719

RCV004537440

ClinVar Variation:

196752

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Arg2165Gln	CA244002 NM_201378.4:c.6494G>A