Allele Registry

Canonical Allele Identifier: PA2830498067

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000560530

RCV000594196

RCV002527964

ClinVar Variation:

478584

HGVS (amino-acid)	Matching Registered Transcripts
NP_958784.1:p.Arg3500His	CA4924629 NM_201382.4:c.10499G>A