{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645474720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 61,
          "referenceAllele": "I",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Ile61Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16620699",
          "hgvs": "NM_005359.6:c.181A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410379[alleleid]",
        "alleleId": 410379,
        "preferredName": "NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419954",
        "RCV": [
          "RCV000480772",
          "RCV000581125",
          "RCV000635474",
          "RCV000764160",
          "RCV003235240",
          "RCV002413323"
        ],
        "variationId": 419954
      }
    ]
  },
  "type": "amino-acid"
}