{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA186853",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 314,
          "referenceAllele": "I",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Ile314Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA186851",
          "hgvs": "NM_005359.6:c.940A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185446[alleleid]",
        "alleleId": 185446,
        "preferredName": "NM_005359.6(SMAD4):c.940A>G (p.Ile314Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183879",
        "RCV": [
          "RCV000162740",
          "RCV000462441",
          "RCV002310726",
          "RCV002277319",
          "RCV003474847"
        ],
        "variationId": 183879
      }
    ]
  },
  "type": "amino-acid"
}