{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916031124",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2609,
          "referenceAllele": "V",
          "start": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Val2609Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5296340",
          "hgvs": "NM_001351528.2:c.7825G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441268[alleleid]",
        "alleleId": 441268,
        "preferredName": "NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448349",
        "RCV": [
          "RCV000518348",
          "RCV003233696",
          "RCV002404331",
          "RCV003233697"
        ],
        "variationId": 448349
      }
    ]
  },
  "type": "amino-acid"
}