{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827617677",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NP_001338457.1:p.Thr760Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5297632",
          "hgvs": "NM_001351528.2:c.2278A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=901260[alleleid]",
        "alleleId": 901260,
        "preferredName": "NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/914088",
        "RCV": [
          "RCV001168074",
          "RCV001168073",
          "RCV001531746",
          "RCV001859091",
          "RCV002445405"
        ],
        "variationId": 914088
      }
    ]
  },
  "type": "amino-acid"
}