Canonical Allele Identifier: PA2828836579
Gene: COG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 487322
ClinVar RCV Id: RCV000576253 RCV003884650 RCV003945357
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366445.1:p.His348Tyr
CA4430786
NM_001379516.1:c.1042C>T