{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915973122",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "T",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_055861.3:p.Thr1825Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5296976",
          "hgvs": "NM_015046.7:c.5473A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174231"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=637806[alleleid]",
        "alleleId": 637806,
        "preferredName": "NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/663550",
        "RCV": [
          "RCV000821447",
          "RCV000992944",
          "RCV001167265",
          "RCV001167266",
          "RCV004540119",
          "RCV002345897"
        ],
        "variationId": 663550
      }
    ]
  },
  "type": "amino-acid"
}