{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916031126",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2625,
          "referenceAllele": "A",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Ala2625Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5296324",
          "hgvs": "NM_001351528.2:c.7874C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=317319[alleleid]",
        "alleleId": 317319,
        "preferredName": "NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365340",
        "RCV": [
          "RCV000293531",
          "RCV000348329",
          "RCV002411265",
          "RCV002523741"
        ],
        "variationId": 365340
      }
    ]
  },
  "type": "amino-acid"
}