Allele Registry

Canonical Allele Identifier: PA2825880252

Gene: COG6 HGNC NCBI

ClinVar RCV:

RCV000523613

RCV002528278

ClinVar Variation:

452649

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138551.1:p.Glu233Lys	CA6958423 NM_001145079.2:c.697G>A