{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826285382",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 344,
          "referenceAllele": "L",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NP_001193625.1:p.Leu344Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10586692",
          "hgvs": "NM_001206696.2:c.1031T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=249225[alleleid]",
        "alleleId": 249225,
        "preferredName": "NM_006147.4(IRF6):c.1316T>C (p.Leu439Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/254674",
        "RCV": [
          "RCV000241540"
        ],
        "variationId": 254674
      }
    ]
  },
  "type": "amino-acid"
}