{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826644001",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "R",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NP_001269316.1:p.Arg132Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602374",
          "hgvs": "NM_001282387.1:c.394C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362770[alleleid]",
        "alleleId": 362770,
        "preferredName": "NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375891",
        "RCV": [
          "RCV000419656",
          "RCV000420988",
          "RCV000418601",
          "RCV000421691",
          "RCV000428207",
          "RCV000426141",
          "RCV000430360",
          "RCV000434107",
          "RCV000429279",
          "RCV000438918",
          "RCV000436904",
          "RCV000437909",
          "RCV000439965",
          "RCV000441917",
          "RCV000445302",
          "RCV000435816",
          "RCV000997650",
          "RCV002227473",
          "RCV002291276",
          "RCV003323531",
          "RCV003458426"
        ],
        "variationId": 375891
      }
    ]
  },
  "type": "amino-acid"
}