{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826431520",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "referenceAllele": "P",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001243825.1:p.Pro110Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2829431",
          "hgvs": "NM_001256896.2:c.328C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159976"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=520147[alleleid]",
        "alleleId": 520147,
        "preferredName": "NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/534124",
        "RCV": [
          "RCV000641544",
          "RCV000732674"
        ],
        "variationId": 534124
      }
    ]
  },
  "type": "amino-acid"
}