{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658662211",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_055861.3:p.Gly1006Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297499",
          "hgvs": "NM_015046.7:c.3016G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375332803",
          "hgvs": "NM_015046.7:c.3016G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174231"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441298[alleleid]",
        "alleleId": 441298,
        "preferredName": "NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448317",
        "RCV": [
          "RCV000517441",
          "RCV000644833",
          "RCV001311797",
          "RCV002438247"
        ],
        "variationId": 448317
      }
    ]
  },
  "type": "amino-acid"
}