{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825572293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 144,
          "referenceAllele": "K",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001107854.1:p.Lys144Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA050850",
          "hgvs": "NM_001114382.3:c.431A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203091[alleleid]",
        "alleleId": 203091,
        "preferredName": "NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207700",
        "RCV": [
          "RCV000189958",
          "RCV000229518",
          "RCV002327021",
          "RCV003996876"
        ],
        "variationId": 207700
      }
    ]
  },
  "type": "amino-acid"
}