{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827616094",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 218,
          "referenceAllele": "K",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338456.1:p.Lys218Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297991",
          "hgvs": "NM_001351527.2:c.654G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375349464",
          "hgvs": "NM_001351527.2:c.654G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441312[alleleid]",
        "alleleId": 441312,
        "preferredName": "NM_015046.7(SETX):c.654G>C (p.Lys218Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448341",
        "RCV": [
          "RCV000516905",
          "RCV001166018",
          "RCV001166019",
          "RCV001848903",
          "RCV000535102",
          "RCV001311799",
          "RCV002367720",
          "RCV004541619"
        ],
        "variationId": 448341
      }
    ]
  },
  "type": "amino-acid"
}