{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826285333",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 226,
          "referenceAllele": "V",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NP_001193625.1:p.Val226Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344575548",
          "hgvs": "NM_001206696.2:c.676G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1310883[alleleid]",
        "alleleId": 1310883,
        "preferredName": "NM_006147.4(IRF6):c.961G>A (p.Val321Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1320638",
        "RCV": [
          "RCV001776617",
          "RCV003772114"
        ],
        "variationId": 1320638
      }
    ]
  },
  "type": "amino-acid"
}