Allele Registry

Canonical Allele Identifier: PA2830500096

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000485767

RCV000798873

ClinVar Variation:

424230

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Ala1230Thr	CA4926989 NM_201383.3:c.3688G>A