{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825919585",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1145,
          "referenceAllele": "D",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155898.1:p.Asp1145Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007378",
          "hgvs": "NM_001162426.2:c.3433G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75674[alleleid]",
        "alleleId": 75674,
        "preferredName": "NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64745",
        "RCV": [
          "RCV000054927",
          "RCV001020306",
          "RCV001084718",
          "RCV000831184",
          "RCV003398644"
        ],
        "variationId": 64745
      }
    ]
  },
  "type": "amino-acid"
}