Allele Registry

Canonical Allele Identifier: PA2830497152

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000606327

RCV002531612

ClinVar Variation:

514221

HGVS (amino-acid)	Matching Registered Transcripts
NP_958784.1:p.Glu2639Gln	CA372521170 NM_201382.4:c.7915G>C