{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826431560",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 133,
          "referenceAllele": "P",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NP_001243825.1:p.Pro133Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA91557425",
          "hgvs": "NM_001256896.2:c.397C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159976"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1492596[alleleid]",
        "alleleId": 1492596,
        "preferredName": "NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1351008",
        "RCV": [
          "RCV002042295"
        ],
        "variationId": 1351008
      }
    ]
  },
  "type": "amino-acid"
}