{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA190057",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1136,
          "referenceAllele": "D",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_000359.1:p.Asp1136Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007356",
          "hgvs": "NM_000368.5:c.3408T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375366432",
          "hgvs": "NM_000368.5:c.3408T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146912"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182910[alleleid]",
        "alleleId": 182910,
        "preferredName": "NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184790",
        "RCV": [
          "RCV000164106",
          "RCV000463228",
          "RCV003474851",
          "RCV003995315"
        ],
        "variationId": 184790
      }
    ]
  },
  "type": "amino-acid"
}