{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826198150",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_001182070.1:p.Gly1016Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA361764189",
          "hgvs": "NM_001195141.2:c.3046G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157003"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969775[alleleid]",
        "alleleId": 969775,
        "preferredName": "NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981703",
        "RCV": [
          "RCV001261246"
        ],
        "variationId": 981703
      }
    ]
  },
  "type": "amino-acid"
}