Allele Registry

Canonical Allele Identifier: PA2830506754

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000598514

RCV000812370

ClinVar Variation:

497045

HGVS (amino-acid)	Matching Registered Transcripts
NP_958786.1:p.Arg2994His	CA4925119 NM_201384.3:c.8981G>A