ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828818061
Gene: COG8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366194.1:p.Arg139His
CA8133966
NM_001379265.1:c.416G>A