Allele Registry

Canonical Allele Identifier: PA2830497203

Gene: PLEC HGNC NCBI

ClinVar Allele:

268184

ClinVar RCV:

RCV000314788

RCV000554534

RCV000725362

ClinVar Variation:

283947

HGVS (amino-acid)	Matching Registered Transcripts
NP_958784.1:p.Arg2689His	CA4925429 NM_201382.4:c.8066G>A