{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916043284",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 972,
          "referenceAllele": "R",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001349106.1:p.Arg972Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007291",
          "hgvs": "NM_001362177.1:c.2915G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622859"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192888[alleleid]",
        "alleleId": 192888,
        "preferredName": "NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195727",
        "RCV": [
          "RCV000642039",
          "RCV000724617",
          "RCV003298222",
          "RCV003474931",
          "RCV003995684"
        ],
        "variationId": 195727
      }
    ]
  },
  "type": "amino-acid"
}