Allele Registry

Canonical Allele Identifier: PA2830479346

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000606327

RCV002531612

ClinVar Variation:

514221

HGVS (amino-acid)	Matching Registered Transcripts
NP_958780.1:p.Glu2625Gln	CA372521170 NM_201378.4:c.7873G>C