{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826988782",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 828,
          "referenceAllele": "R",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NP_001305289.1:p.Arg828Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5174526",
          "hgvs": "NM_001318360.2:c.2483G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640180"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243833[alleleid]",
        "alleleId": 243833,
        "preferredName": "NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242293",
        "RCV": [
          "RCV000757401",
          "RCV001166669",
          "RCV002291611",
          "RCV004020902"
        ],
        "variationId": 242293
      }
    ]
  },
  "type": "amino-acid"
}