{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139765832",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 280,
          "referenceAllele": "R",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_775931.3:p.Arg280Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2829246",
          "hgvs": "NM_173660.5:c.839G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183496"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=923500[alleleid]",
        "alleleId": 923500,
        "preferredName": "NM_173660.5(DOK7):c.839G>A (p.Arg280Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/949765",
        "RCV": [
          "RCV001221305"
        ],
        "variationId": 949765
      }
    ]
  },
  "type": "amino-acid"
}