Allele Registry

Canonical Allele Identifier: PA2828817707

Gene: COG8 HGNC NCBI

ClinVar RCV:

RCV000334221

RCV000381358

RCV002519235

ClinVar Variation:

286530

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366191.1:p.Arg336Trp	CA8133807 NM_001379262.1:c.1006C>T