{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA193195",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 179,
          "referenceAllele": "I",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Ile179Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA193193",
          "hgvs": "NM_005359.6:c.535A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185438[alleleid]",
        "alleleId": 185438,
        "preferredName": "NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185866",
        "RCV": [
          "RCV000165366",
          "RCV000236451",
          "RCV000233612",
          "RCV000764161",
          "RCV001293445",
          "RCV002311026",
          "RCV002470782"
        ],
        "variationId": 185866
      }
    ]
  },
  "type": "amino-acid"
}