{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825292940",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "E",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_001008657.1:p.Glu345Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3510718",
          "hgvs": "NM_001008657.3:c.1034A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148509"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492541[alleleid]",
        "alleleId": 492541,
        "preferredName": "NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501117",
        "RCV": [
          "RCV000591700",
          "RCV002065171",
          "RCV003927933"
        ],
        "variationId": 501117
      }
    ]
  },
  "type": "amino-acid"
}