{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA248177",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 386,
          "referenceAllele": "R",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021575",
      "geneNCBI_id": 54806,
      "geneSymbol": "AHI1",
      "hgvs": [
        "NP_060121.3:p.Arg386Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248175",
          "hgvs": "NM_017651.5:c.1157G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175605"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196300[alleleid]",
        "alleleId": 196300,
        "preferredName": "NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199141",
        "RCV": [
          "RCV000724597",
          "RCV001226983",
          "RCV004020179"
        ],
        "variationId": 199141
      }
    ]
  },
  "type": "amino-acid"
}