{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA264246",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 133,
          "referenceAllele": "V",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_000359.1:p.Val133Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007561",
          "hgvs": "NM_000368.5:c.397G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146912"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75633[alleleid]",
        "alleleId": 75633,
        "preferredName": "NM_000368.5(TSC1):c.397G>A (p.Val133Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64704",
        "RCV": [
          "RCV000054879",
          "RCV000456358",
          "RCV000782214",
          "RCV002371892"
        ],
        "variationId": 64704
      }
    ]
  },
  "type": "amino-acid"
}