{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825603983",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 270,
          "referenceAllele": "R",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NP_001120838.1:p.Arg270Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351116731",
          "hgvs": "NM_001127366.3:c.808C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152067"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537715[alleleid]",
        "alleleId": 537715,
        "preferredName": "NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547748",
        "RCV": [
          "RCV000660218",
          "RCV001861717"
        ],
        "variationId": 547748
      }
    ]
  },
  "type": "amino-acid"
}