{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107551",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6,
          "referenceAllele": "R",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NP_006138.1:p.Arg6Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252759",
          "hgvs": "NM_006147.4:c.16C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18456[alleleid]",
        "alleleId": 18456,
        "preferredName": "NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3417",
        "RCV": [
          "RCV000003586",
          "RCV000414901",
          "RCV000413551",
          "RCV000762880"
        ],
        "variationId": 3417
      }
    ]
  },
  "type": "amino-acid"
}