{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916031123",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2608,
          "referenceAllele": "V",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Val2608Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5296343",
          "hgvs": "NM_001351528.2:c.7822G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=316882[alleleid]",
        "alleleId": 316882,
        "preferredName": "NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365341",
        "RCV": [
          "RCV000335520",
          "RCV000399643",
          "RCV001509370",
          "RCV001861344",
          "RCV002402087"
        ],
        "variationId": 365341
      }
    ]
  },
  "type": "amino-acid"
}