Canonical Allele Identifier: PA2828817707
Gene: COG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 286530
ClinVar RCV Id: RCV000334221 RCV000381358 RCV002519235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366191.1:p.Arg336Trp
CA8133807
NM_001379262.1:c.1006C>T