{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827016065",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "I",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305760.1:p.Ile1404Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021368",
          "hgvs": "NM_001318831.2:c.4211T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622649"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58620[alleleid]",
        "alleleId": 58620,
        "preferredName": "NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49458",
        "RCV": [
          "RCV000042718",
          "RCV002514167",
          "RCV001557106",
          "RCV003224798"
        ],
        "variationId": 49458
      }
    ]
  },
  "type": "amino-acid"
}