{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827617960",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1276,
          "referenceAllele": "Q",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Gln1276Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297318",
          "hgvs": "NM_001351528.2:c.3826C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411570[alleleid]",
        "alleleId": 411570,
        "preferredName": "NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424692",
        "RCV": [
          "RCV000515884",
          "RCV000560688",
          "RCV000859602",
          "RCV001169791",
          "RCV001169792",
          "RCV002356794",
          "RCV004541530"
        ],
        "variationId": 424692
      }
    ]
  },
  "type": "amino-acid"
}