{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573247443",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 351,
          "referenceAllele": "F",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NP_006138.1:p.Phe351Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344575045",
          "hgvs": "NM_006147.4:c.1052T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1464375[alleleid]",
        "alleleId": 1464375,
        "preferredName": "NM_006147.4(IRF6):c.1052T>C (p.Phe351Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1455254",
        "RCV": [
          "RCV001942280"
        ],
        "variationId": 1455254
      }
    ]
  },
  "type": "amino-acid"
}