{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645397468",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "A",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NP_006138.1:p.Ala61Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042331",
          "hgvs": "NM_006147.4:c.181G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359263[alleleid]",
        "alleleId": 359263,
        "preferredName": "NM_006147.4(IRF6):c.181G>A (p.Ala61Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372770",
        "RCV": [
          "RCV000413706"
        ],
        "variationId": 372770
      }
    ]
  },
  "type": "amino-acid"
}