{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825784792",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1181,
          "referenceAllele": "R",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021575",
      "geneNCBI_id": 54806,
      "geneSymbol": "AHI1",
      "hgvs": [
        "NP_001128303.1:p.Arg1181Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4011958",
          "hgvs": "NM_001134831.2:c.3542G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152775"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=299166[alleleid]",
        "alleleId": 299166,
        "preferredName": "NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/355495",
        "RCV": [
          "RCV000310232",
          "RCV001309958",
          "RCV002523549"
        ],
        "variationId": 355495
      }
    ]
  },
  "type": "amino-acid"
}