{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827018556",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1016,
          "referenceAllele": "E",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305761.1:p.Glu1016Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA319501",
          "hgvs": "NM_001318832.2:c.3046G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203161[alleleid]",
        "alleleId": 203161,
        "preferredName": "NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207741",
        "RCV": [
          "RCV000190014",
          "RCV000766975",
          "RCV000562972",
          "RCV001085820",
          "RCV003462294",
          "RCV004528972",
          "RCV003996892"
        ],
        "variationId": 207741
      }
    ]
  },
  "type": "amino-acid"
}