{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828059367",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 184,
          "referenceAllele": "G",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001349106.1:p.Gly184Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008396",
          "hgvs": "NM_001362177.1:c.550G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375368965",
          "hgvs": "NM_001362177.1:c.550G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622859"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58287[alleleid]",
        "alleleId": 58287,
        "preferredName": "NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2798063[alleleid]",
        "alleleId": 2798063,
        "preferredName": "NM_000368.5(TSC1):c.913G>C (p.Gly305Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49125",
        "RCV": [
          "RCV000042380",
          "RCV000432455",
          "RCV002371859"
        ],
        "variationId": 49125
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2636244",
        "RCV": [
          "RCV003420893"
        ],
        "variationId": 2636244
      }
    ]
  },
  "type": "amino-acid"
}