{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828020759",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1216,
          "referenceAllele": "E",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_001341832.1:p.Glu1216Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008815",
          "hgvs": "NM_001354903.2:c.3646G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622928"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15868[alleleid]",
        "alleleId": 15868,
        "preferredName": "NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/829",
        "RCV": [
          "RCV000000872",
          "RCV000034389",
          "RCV000035073",
          "RCV000322880",
          "RCV000579405",
          "RCV001353725",
          "RCV002286387",
          "RCV003650352"
        ],
        "variationId": 829
      }
    ]
  },
  "type": "amino-acid"
}