{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828809407",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "R",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NP_001366070.1:p.Arg948Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8945810",
          "hgvs": "NM_001379141.1:c.2842C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1333031[alleleid]",
        "alleleId": 1333031,
        "preferredName": "NM_015559.3(SETBP1):c.2842C>T (p.Arg948Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341783",
        "RCV": [
          "RCV001837263",
          "RCV002034698"
        ],
        "variationId": 1341783
      }
    ]
  },
  "type": "amino-acid"
}