{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA319597",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 1142,
          "referenceAllele": "L",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_000539.2:p.Leu1142Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA319595",
          "hgvs": "NM_000548.5:c.3425T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147083"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203168[alleleid]",
        "alleleId": 203168,
        "preferredName": "NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207784",
        "RCV": [
          "RCV000190077",
          "RCV000644198",
          "RCV002453704"
        ],
        "variationId": 207784
      }
    ]
  },
  "type": "amino-acid"
}