{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827617679",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 761,
          "referenceAllele": "S",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Ser761Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297629",
          "hgvs": "NM_001351528.2:c.2282C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458977[alleleid]",
        "alleleId": 458977,
        "preferredName": "NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/468491",
        "RCV": [
          "RCV000526691",
          "RCV002448727",
          "RCV003480678",
          "RCV004541714"
        ],
        "variationId": 468491
      }
    ]
  },
  "type": "amino-acid"
}