{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829983566",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1697,
          "referenceAllele": "W",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_066399.2:p.Trp1697Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394314459",
          "hgvs": "NM_021055.3:c.5090G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=812630[alleleid]",
        "alleleId": 812630,
        "preferredName": "NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/825558",
        "RCV": [
          "RCV001023747",
          "RCV001061035",
          "RCV001772198",
          "RCV004004640"
        ],
        "variationId": 825558
      }
    ]
  },
  "type": "amino-acid"
}