{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827616512",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1077,
          "referenceAllele": "D",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338456.1:p.Asp1077Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297445",
          "hgvs": "NM_001351527.2:c.3229G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411571[alleleid]",
        "alleleId": 411571,
        "preferredName": "NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424687",
        "RCV": [
          "RCV000515959",
          "RCV000517650",
          "RCV001082564",
          "RCV001167391",
          "RCV001168005",
          "RCV001283502",
          "RCV002446949",
          "RCV003105922",
          "RCV004535538"
        ],
        "variationId": 424687
      }
    ]
  },
  "type": "amino-acid"
}