{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645474876",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Gly386Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602964",
          "hgvs": "NM_005359.6:c.1156G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363417[alleleid]",
        "alleleId": 363417,
        "preferredName": "NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376538",
        "RCV": [
          "RCV000419978",
          "RCV000421895",
          "RCV000429536",
          "RCV000430240",
          "RCV000439753",
          "RCV000439617"
        ],
        "variationId": 376538
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3723142",
        "RCV": [
          "RCV005203502"
        ],
        "variationId": 3723142
      }
    ]
  },
  "type": "amino-acid"
}