{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825662496",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 545,
          "referenceAllele": "Q",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NP_001121370.1:p.Gln545His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10413908",
          "hgvs": "NM_001127898.4:c.1635G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413188076",
          "hgvs": "NM_001127898.4:c.1635G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152182"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1335464[alleleid]",
        "alleleId": 1335464,
        "preferredName": "NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1343765",
        "RCV": [
          "RCV001844782",
          "RCV002489900",
          "RCV002543340",
          "RCV003911047",
          "RCV004038691"
        ],
        "variationId": 1343765
      }
    ]
  },
  "type": "amino-acid"
}