{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA128099",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 361,
          "referenceAllele": "R",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Arg361His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128097",
          "hgvs": "NM_005359.6:c.1082G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36173[alleleid]",
        "alleleId": 36173,
        "preferredName": "NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/24832",
        "RCV": [
          "RCV000421390",
          "RCV000431203",
          "RCV000419206",
          "RCV000441473",
          "RCV000434006",
          "RCV000439037",
          "RCV000423753",
          "RCV000520995",
          "RCV000431590",
          "RCV000635423",
          "RCV000763030",
          "RCV002316201",
          "RCV004018654"
        ],
        "variationId": 24832
      }
    ]
  },
  "type": "amino-acid"
}