{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825572596",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 240,
          "referenceAllele": "I",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001107854.1:p.Ile240Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA319418",
          "hgvs": "NM_001114382.3:c.718A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203098[alleleid]",
        "alleleId": 203098,
        "preferredName": "NM_000548.5(TSC2):c.718A>G (p.Ile240Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207706",
        "RCV": [
          "RCV000801305",
          "RCV002372160",
          "RCV003996879"
        ],
        "variationId": 207706
      }
    ]
  },
  "type": "amino-acid"
}