Allele Registry

Canonical Allele Identifier: PA2825175047

Gene: PLEC HGNC NCBI

ClinVar RCV:

RCV000606327

RCV002531612

ClinVar Variation:

514221

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Glu2666Gln	CA372521170 NM_000445.4:c.7996G>C