{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827617040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2119,
          "referenceAllele": "V",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338456.1:p.Val2119Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5296748",
          "hgvs": "NM_001351527.2:c.6356T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=901245[alleleid]",
        "alleleId": 901245,
        "preferredName": "NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/913919",
        "RCV": [
          "RCV001167773",
          "RCV001167774",
          "RCV002558656",
          "RCV003769817",
          "RCV003482333"
        ],
        "variationId": 913919
      }
    ]
  },
  "type": "amino-acid"
}