{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096834",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 389,
          "referenceAllele": "L",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_055861.3:p.Leu389Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252183",
          "hgvs": "NM_015046.7:c.1166T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174231"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17328[alleleid]",
        "alleleId": 17328,
        "preferredName": "NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2289",
        "RCV": [
          "RCV000002379",
          "RCV000644828",
          "RCV000724322",
          "RCV000789615",
          "RCV003233065"
        ],
        "variationId": 2289
      }
    ]
  },
  "type": "amino-acid"
}