{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826077131",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 819,
          "referenceAllele": "R",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002020",
      "geneNCBI_id": 1181,
      "geneSymbol": "CLCN2",
      "hgvs": [
        "NP_001164558.1:p.Arg819Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2733649",
          "hgvs": "NM_001171087.2:c.2456G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155743"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2829591[alleleid]",
        "alleleId": 2829591,
        "preferredName": "NM_004366.6(CLCN2):c.2507G>A (p.Arg836Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2662140",
        "RCV": [
          "RCV003443635",
          "RCV004364677"
        ],
        "variationId": 2662140
      }
    ]
  },
  "type": "amino-acid"
}