{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825790928",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "A",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_001128715.1:p.Ala1081Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3511450",
          "hgvs": "NM_001135243.2:c.3241G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152876"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=734945[alleleid]",
        "alleleId": 734945,
        "preferredName": "NM_001371623.1(TCOF1):c.3241G>A (p.Ala1081Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/722583",
        "RCV": [
          "RCV000896238",
          "RCV002065628",
          "RCV002540145"
        ],
        "variationId": 722583
      }
    ]
  },
  "type": "amino-acid"
}