{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827002850",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 868,
          "referenceAllele": "R",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305756.1:p.Arg868Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017942",
          "hgvs": "NM_001318827.2:c.2602C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27443[alleleid]",
        "alleleId": 27443,
        "preferredName": "NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12404",
        "RCV": [
          "RCV000482063",
          "RCV001536008",
          "RCV002426499",
          "RCV000013213",
          "RCV000042962"
        ],
        "variationId": 12404
      }
    ]
  },
  "type": "amino-acid"
}