{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916019573",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 136,
          "referenceAllele": "C",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NP_001290394.1:p.Cys136Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA255720",
          "hgvs": "NM_001303465.2:c.406T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166009"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26147[alleleid]",
        "alleleId": 26147,
        "preferredName": "NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11108",
        "RCV": [
          "RCV000011857"
        ],
        "variationId": 11108
      }
    ]
  },
  "type": "amino-acid"
}