{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA319271",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 30,
          "referenceAllele": "K",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_000359.1:p.Lys30Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA319269",
          "hgvs": "NM_000368.5:c.89A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146912"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202503[alleleid]",
        "alleleId": 202503,
        "preferredName": "NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207623",
        "RCV": [
          "RCV000189831",
          "RCV000230335",
          "RCV000575687",
          "RCV003955133",
          "RCV003996854"
        ],
        "variationId": 207623
      }
    ]
  },
  "type": "amino-acid"
}