{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826075644",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "referenceAllele": "R",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NP_001164408.1:p.Arg212Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130062",
          "hgvs": "NM_001170937.1:c.634C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155732"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31266[alleleid]",
        "alleleId": 31266,
        "preferredName": "NM_004960.4(FUS):c.646C>T (p.Arg216Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16227",
        "RCV": [
          "RCV000017614",
          "RCV000030719",
          "RCV001588814",
          "RCV002247351",
          "RCV002513082"
        ],
        "variationId": 16227
      }
    ]
  },
  "type": "amino-acid"
}