{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826157444",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 129,
          "referenceAllele": "R",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NP_001177312.1:p.Arg129Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274432",
          "hgvs": "NM_001190383.3:c.386G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156629"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186790[alleleid]",
        "alleleId": 186790,
        "preferredName": "NM_005476.7(GNE):c.386G>A (p.Arg129Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189156",
        "RCV": [
          "RCV000169582",
          "RCV001390245"
        ],
        "variationId": 189156
      }
    ]
  },
  "type": "amino-acid"
}