{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645474845",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 334,
          "referenceAllele": "Q",
          "start": 333
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      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
        {
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          "hgvs": "NM_005359.6:c.1002G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA402464182",
          "hgvs": "NM_005359.6:c.1002G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410390[alleleid]",
        "alleleId": 410390,
        "preferredName": "NM_005359.6(SMAD4):c.1002G>T (p.Gln334His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1442336[alleleid]",
        "alleleId": 1442336,
        "preferredName": "NM_005359.6(SMAD4):c.1002G>C (p.Gln334His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419077",
        "RCV": [
          "RCV000481014",
          "RCV000701948",
          "RCV002395147",
          "RCV004002283"
        ],
        "variationId": 419077
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1510281",
        "RCV": [
          "RCV002011648"
        ],
        "variationId": 1510281
      }
    ]
  },
  "type": "amino-acid"
}