{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645386560",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "I",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NP_848547.4:p.Ile573Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8203017",
          "hgvs": "NM_178452.6:c.1718T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184048"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=255928[alleleid]",
        "alleleId": 255928,
        "preferredName": "NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/262945",
        "RCV": [
          "RCV000251600",
          "RCV000861555",
          "RCV002285301"
        ],
        "variationId": 262945
      }
    ]
  },
  "type": "amino-acid"
}