{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825435275",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001070651.1:p.Cys414Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394321376",
          "hgvs": "NM_001077183.3:c.1240T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394321383",
          "hgvs": "NM_001077183.3:c.1241G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150406"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1296058[alleleid]",
        "alleleId": 1296058,
        "preferredName": "NM_000548.5(TSC2):c.1240T>A (p.Cys414Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1307109",
        "RCV": [
          "RCV001760527",
          "RCV002300577"
        ],
        "variationId": 1307109
      }
    ]
  },
  "type": "amino-acid"
}