{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827617253",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2587,
          "referenceAllele": "I",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338456.1:p.Ile2587Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA148730",
          "hgvs": "NM_001351527.2:c.7759A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101566[alleleid]",
        "alleleId": 101566,
        "preferredName": "NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95669",
        "RCV": [
          "RCV000081702",
          "RCV000294610",
          "RCV000388921",
          "RCV000713232",
          "RCV001522459"
        ],
        "variationId": 95669
      }
    ]
  },
  "type": "amino-acid"
}