Allele Registry

Canonical Allele Identifier: PA645427201

Gene: COG8 HGNC NCBI

ClinVar RCV:

RCV000725740

RCV000820727

RCV004021185

ClinVar Variation:

285872

HGVS (amino-acid)	Matching Registered Transcripts
NP_115758.3:p.Gly360Glu	CA8133793 NM_032382.5:c.1079G>A