{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825461125",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 418,
          "referenceAllele": "R",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NP_001073347.1:p.Arg418Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254828",
          "hgvs": "NM_001079878.2:c.1252C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150594"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24521[alleleid]",
        "alleleId": 24521,
        "preferredName": "NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9482",
        "RCV": [
          "RCV000010090",
          "RCV000591222",
          "RCV001042434",
          "RCV001075358"
        ],
        "variationId": 9482
      }
    ]
  },
  "type": "amino-acid"
}