Allele Registry

Canonical Allele Identifier: PA2830502989

Gene: PLEC HGNC NCBI

ClinVar Allele:

369376

ClinVar RCV:

RCV000441095

RCV000793945

RCV001270892

RCV003985085

ClinVar Variation:

379928

HGVS (amino-acid)	Matching Registered Transcripts
NP_958785.1:p.Arg3817His	CA4924351 NM_201383.3:c.11450G>A