{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825292927",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_001008657.1:p.Gly321Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3510707",
          "hgvs": "NM_001008657.3:c.961G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA361742341",
          "hgvs": "NM_001008657.3:c.961G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148509"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=749353[alleleid]",
        "alleleId": 749353,
        "preferredName": "NM_001371623.1(TCOF1):c.961G>A (p.Gly321Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/741146",
        "RCV": [
          "RCV000917278",
          "RCV002540921",
          "RCV002542149"
        ],
        "variationId": 741146
      }
    ]
  },
  "type": "amino-acid"
}