{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA319026",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "referenceAllele": "R",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NP_065756.1:p.Arg242Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA319025",
          "hgvs": "NM_020705.3:c.724C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177043"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96871[alleleid]",
        "alleleId": 96871,
        "preferredName": "NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/91395",
        "RCV": [
          "RCV000076913",
          "RCV000189686",
          "RCV000585843",
          "RCV000651571",
          "RCV002371919",
          "RCV004549496"
        ],
        "variationId": 91395
      }
    ]
  },
  "type": "amino-acid"
}