Allele Registry

Canonical Allele Identifier: PA2828836592

Gene: COG5 HGNC NCBI

ClinVar RCV:

RCV000443421

RCV000490350

RCV003917860

ClinVar Variation:

225317

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366445.1:p.Ile371Thr	CA4430773 NM_001379516.1:c.1112T>C