{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645510859",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 196,
          "referenceAllele": "R",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004236",
      "geneNCBI_id": 2671,
      "geneSymbol": "GFER",
      "hgvs": [
        "NP_005253.3:p.Arg196Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7826097",
          "hgvs": "NM_005262.3:c.586C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170909"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414710[alleleid]",
        "alleleId": 414710,
        "preferredName": "NM_005262.3(GFER):c.586C>T (p.Arg196Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426097",
        "RCV": [
          "RCV000508691",
          "RCV000709773"
        ],
        "variationId": 426097
      }
    ]
  },
  "type": "amino-acid"
}