{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828165288",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 311,
          "referenceAllele": "R",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "NP_001352289.1:p.Arg311Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118650",
          "hgvs": "NM_001365360.2:c.932G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22314[alleleid]",
        "alleleId": 22314,
        "preferredName": "NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7275",
        "RCV": [
          "RCV000007698",
          "RCV001851723"
        ],
        "variationId": 7275
      }
    ]
  },
  "type": "amino-acid"
}