{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827680858",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 39,
          "referenceAllele": "",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_001339706.1:p.Ser39dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341294",
          "hgvs": "NM_001352777.2:c.116_118dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS634426"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28639[alleleid]",
        "alleleId": 28639,
        "preferredName": "NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13600",
        "RCV": [
          "RCV000014570",
          "RCV003764574"
        ],
        "variationId": 13600
      }
    ]
  },
  "type": "amino-acid"
}