{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827014960",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1092,
          "referenceAllele": "S",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305760.1:p.Ser1092Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019831",
          "hgvs": "NM_001318831.2:c.3275C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622649"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139124[alleleid]",
        "alleleId": 139124,
        "preferredName": "NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135385",
        "RCV": [
          "RCV000122231",
          "RCV000227253",
          "RCV000350281",
          "RCV000490949",
          "RCV004542922",
          "RCV000858996"
        ],
        "variationId": 135385
      }
    ]
  },
  "type": "amino-acid"
}