{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA114554",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1289,
          "referenceAllele": "I",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_001120983.2:p.Ile1289Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008761",
          "hgvs": "NM_001127511.3:c.3866T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152109"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15861[alleleid]",
        "alleleId": 15861,
        "preferredName": "NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/822",
        "RCV": [
          "RCV000000864",
          "RCV000000865",
          "RCV000020088",
          "RCV000034388",
          "RCV000120049",
          "RCV000115087",
          "RCV000210085",
          "RCV000238802",
          "RCV000722046",
          "RCV001195214",
          "RCV001554302",
          "RCV001824556",
          "RCV001535784",
          "RCV003650351"
        ],
        "variationId": 822
      }
    ]
  },
  "type": "amino-acid"
}