{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA186265",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 7,
          "referenceAllele": "T",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NP_005350.1:p.Thr7Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA186263",
          "hgvs": "NM_005359.6:c.20C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185427[alleleid]",
        "alleleId": 185427,
        "preferredName": "NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183733",
        "RCV": [
          "RCV000162438",
          "RCV000196213",
          "RCV000589285",
          "RCV000764159",
          "RCV001123230",
          "RCV001123231",
          "RCV002285148",
          "RCV002310723",
          "RCV001328507",
          "RCV002468936",
          "RCV003398830"
        ],
        "variationId": 183733
      }
    ]
  },
  "type": "amino-acid"
}