Canonical Allele Identifier: PA2828817838
Gene: COG8 HGNC NCBI
ClinVar RCV:
RCV002040869
ClinVar Variation:
1516557
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366192.1:p.Gly340Ser
CA8133803
NM_001379263.1:c.1018G>A