{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826709493",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1181,
          "referenceAllele": "R",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002151",
      "geneNCBI_id": 1258,
      "geneSymbol": "CNGB1",
      "hgvs": [
        "NP_001273059.1:p.Arg1181Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8082505",
          "hgvs": "NM_001286130.2:c.3542G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163228"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=335671[alleleid]",
        "alleleId": 335671,
        "preferredName": "NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/320058",
        "RCV": [
          "RCV000364070",
          "RCV001358311",
          "RCV002522880",
          "RCV003922352"
        ],
        "variationId": 320058
      }
    ]
  },
  "type": "amino-acid"
}