Allele Registry

Canonical Allele Identifier: PA2830499940

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000608122

RCV000946059

ClinVar Variation:

512266

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Gln1080Arg	CA4927166 NM_201383.3:c.3239A>G