{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828092656",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 905,
          "referenceAllele": "R",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001350457.1:p.Arg905Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017951",
          "hgvs": "NM_001363528.2:c.2714G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622664"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27442[alleleid]",
        "alleleId": 27442,
        "preferredName": "NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12403",
        "RCV": [
          "RCV000013212",
          "RCV000042875",
          "RCV000221069",
          "RCV000255572",
          "RCV002482858",
          "RCV004532330"
        ],
        "variationId": 12403
      }
    ]
  },
  "type": "amino-acid"
}