{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826601410",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 259,
          "referenceAllele": "R",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NP_001269092.1:p.Arg259His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10413805",
          "hgvs": "NM_001282163.2:c.776G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162243"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1427821[alleleid]",
        "alleleId": 1427821,
        "preferredName": "NM_001127898.4(CLCN5):c.926G>A (p.Arg309His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1398755",
        "RCV": [
          "RCV001915212",
          "RCV002490182"
        ],
        "variationId": 1398755
      }
    ]
  },
  "type": "amino-acid"
}