{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825804228",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NP_001129409.1:p.Cys282Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA249847",
          "hgvs": "NM_001135937.3:c.845G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA402504373",
          "hgvs": "NM_001135937.3:c.844T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153003"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205308[alleleid]",
        "alleleId": 205308,
        "preferredName": "NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208683",
        "RCV": [
          "RCV000190697",
          "RCV001789764"
        ],
        "variationId": 208683
      }
    ]
  },
  "type": "amino-acid"
}