Allele Registry

Canonical Allele Identifier: PA2825173471

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000518288

RCV000726855

RCV001081655

ClinVar Variation:

448065

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Arg1347Cys	CA4926829 NM_000445.4:c.4039C>T