{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829975701",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 718,
          "referenceAllele": "R",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_066399.2:p.Arg718His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016838",
          "hgvs": "NM_021055.3:c.2153G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184130[alleleid]",
        "alleleId": 184130,
        "preferredName": "NM_000548.5(TSC2):c.2153G>A (p.Arg718His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186667",
        "RCV": [
          "RCV000166299",
          "RCV000469825",
          "RCV001589035"
        ],
        "variationId": 186667
      }
    ]
  },
  "type": "amino-acid"
}