{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825434949",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 304,
          "referenceAllele": "W",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001070651.1:p.Trp304Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA023104",
          "hgvs": "NM_001077183.3:c.910T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394315311",
          "hgvs": "NM_001077183.3:c.910T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150406"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76074[alleleid]",
        "alleleId": 76074,
        "preferredName": "NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65143",
        "RCV": [
          "RCV000055358",
          "RCV002054888",
          "RCV002371896",
          "RCV004528260",
          "RCV000795349",
          "RCV001562466"
        ],
        "variationId": 65143
      }
    ]
  },
  "type": "amino-acid"
}