{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA204893",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NP_005325.2:p.Thr1119Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204892",
          "hgvs": "NM_005334.3:c.3356C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170976"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205336[alleleid]",
        "alleleId": 205336,
        "preferredName": "NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208779",
        "RCV": [
          "RCV000190805",
          "RCV001814098",
          "RCV001818463"
        ],
        "variationId": 208779
      }
    ]
  },
  "type": "amino-acid"
}