{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101535",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 361,
          "referenceAllele": "R",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Arg361Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128095",
          "hgvs": "NM_005359.6:c.1081C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23582[alleleid]",
        "alleleId": 23582,
        "preferredName": "NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8543",
        "RCV": [
          "RCV000009072",
          "RCV000009071",
          "RCV000059732",
          "RCV000419013",
          "RCV000419899",
          "RCV000424666",
          "RCV000430148",
          "RCV000435832",
          "RCV000440366",
          "RCV000429075",
          "RCV000434956",
          "RCV001376609",
          "RCV002311508",
          "RCV003924819"
        ],
        "variationId": 8543
      }
    ]
  },
  "type": "amino-acid"
}