{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645474819",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "P",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Pro246Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10580980",
          "hgvs": "NM_005359.6:c.736C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=236534[alleleid]",
        "alleleId": 236534,
        "preferredName": "NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232751",
        "RCV": [
          "RCV000220373",
          "RCV000689822",
          "RCV000678043",
          "RCV001124420",
          "RCV001123336",
          "RCV001261774",
          "RCV001312210",
          "RCV001762494",
          "RCV002311325"
        ],
        "variationId": 232751
      }
    ]
  },
  "type": "amino-acid"
}