{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827618102",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1558,
          "referenceAllele": "T",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Thr1558Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297156",
          "hgvs": "NM_001351528.2:c.4672A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577104[alleleid]",
        "alleleId": 577104,
        "preferredName": "NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586548",
        "RCV": [
          "RCV000713215",
          "RCV001165734",
          "RCV001169728",
          "RCV001861986",
          "RCV001849076"
        ],
        "variationId": 586548
      }
    ]
  },
  "type": "amino-acid"
}