{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828278166",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 679,
          "referenceAllele": "R",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017966",
      "geneNCBI_id": 51134,
      "geneSymbol": "CEP83",
      "hgvs": [
        "NP_001354966.1:p.Arg679His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6721474",
          "hgvs": "NM_001368037.1:c.2036G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674322"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1929285[alleleid]",
        "alleleId": 1929285,
        "preferredName": "NM_016122.3(CEP83):c.2036G>A (p.Arg679His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2193609",
        "RCV": [
          "RCV002612271"
        ],
        "variationId": 2193609
      }
    ]
  },
  "type": "amino-acid"
}