{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829979884",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1248,
          "referenceAllele": "V",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_066399.2:p.Val1248Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019604",
          "hgvs": "NM_021055.3:c.3742G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75776[alleleid]",
        "alleleId": 75776,
        "preferredName": "NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64847",
        "RCV": [
          "RCV000055045",
          "RCV000475134",
          "RCV000164851",
          "RCV001703956"
        ],
        "variationId": 64847
      }
    ]
  },
  "type": "amino-acid"
}