Canonical Allele Identifier: PA2828818044
Gene: COG8 HGNC NCBI
ClinVar RCV:
RCV003609868
ClinVar Variation:
2914898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366194.1:p.Asp45His
CA8134050
NM_001379265.1:c.133G>C