{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826251642",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 308,
          "referenceAllele": "R",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007707",
      "geneNCBI_id": 4719,
      "geneSymbol": "NDUFS1",
      "hgvs": [
        "NP_001186911.1:p.Arg308Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2070515",
          "hgvs": "NM_001199982.2:c.923G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157751"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790155[alleleid]",
        "alleleId": 790155,
        "preferredName": "NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801856",
        "RCV": [
          "RCV000986982",
          "RCV001858657"
        ],
        "variationId": 801856
      }
    ]
  },
  "type": "amino-acid"
}