{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827305265",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 175,
          "referenceAllele": "T",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030791",
      "geneNCBI_id": 29914,
      "geneSymbol": "UBIAD1",
      "hgvs": [
        "NP_001317278.1:p.Thr175Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114578",
          "hgvs": "NM_001330349.2:c.524C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660333"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15898[alleleid]",
        "alleleId": 15898,
        "preferredName": "NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/859",
        "RCV": [
          "RCV000000907"
        ],
        "variationId": 859
      }
    ]
  },
  "type": "amino-acid"
}