{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645474903",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Cys499Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16615805",
          "hgvs": "NM_005359.6:c.1495T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402774[alleleid]",
        "alleleId": 402774,
        "preferredName": "NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/405495",
        "RCV": [
          "RCV000489838",
          "RCV002230331",
          "RCV002319001"
        ],
        "variationId": 405495
      }
    ]
  },
  "type": "amino-acid"
}