Allele Registry

Canonical Allele Identifier: PA2830504574

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000608122

RCV000946059

ClinVar Variation:

512266

HGVS (amino-acid)	Matching Registered Transcripts
NP_958786.1:p.Gln1076Arg	CA4927166 NM_201384.3:c.3227A>G