{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826287983",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 284,
          "referenceAllele": "R",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NP_001193784.1:p.Arg284Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117472",
          "hgvs": "NM_001206855.3:c.851G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20422[alleleid]",
        "alleleId": 20422,
        "preferredName": "NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5383",
        "RCV": [
          "RCV000005714",
          "RCV000020537",
          "RCV000168108",
          "RCV001081144",
          "RCV003914812"
        ],
        "variationId": 5383
      }
    ]
  },
  "type": "amino-acid"
}