{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825999280",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 28,
          "referenceAllele": "K",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001158145.1:p.Lys28Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2828855",
          "hgvs": "NM_001164673.2:c.82A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155082"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490956[alleleid]",
        "alleleId": 490956,
        "preferredName": "NM_173660.5(DOK7):c.82A>C (p.Lys28Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499532",
        "RCV": [
          "RCV000591680",
          "RCV001394847"
        ],
        "variationId": 499532
      }
    ]
  },
  "type": "amino-acid"
}