Canonical Allele Identifier: PA2828835045
Gene: COG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 225317
ClinVar RCV Id: RCV000443421 RCV000490350 RCV003917860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366441.1:p.Ile551Thr
CA4430773
NM_001379512.1:c.1652T>C