{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829982462",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1597,
          "referenceAllele": "H",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_066399.2:p.His1597Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021270",
          "hgvs": "NM_021055.3:c.4789C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58495[alleleid]",
        "alleleId": 58495,
        "preferredName": "NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49333",
        "RCV": [
          "RCV000042593",
          "RCV001042053"
        ],
        "variationId": 49333
      }
    ]
  },
  "type": "amino-acid"
}