{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916019583",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 201,
          "referenceAllele": "G",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NP_001290394.1:p.Gly201Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA255719",
          "hgvs": "NM_001303465.2:c.601G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA415184083",
          "hgvs": "NM_001303465.2:c.601G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166009"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26144[alleleid]",
        "alleleId": 26144,
        "preferredName": "NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11105",
        "RCV": [
          "RCV000011854",
          "RCV003226156",
          "RCV003333950"
        ],
        "variationId": 11105
      }
    ]
  },
  "type": "amino-acid"
}