{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826191921",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_001180569.1:p.Cys368Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA227993",
          "hgvs": "NM_001193640.2:c.1102T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156933"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105759[alleleid]",
        "alleleId": 105759,
        "preferredName": "NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99870",
        "RCV": [
          "RCV000086308",
          "RCV000797320",
          "RCV001376374",
          "RCV001826777",
          "RCV003453013",
          "RCV003235040",
          "RCV003453012"
        ],
        "variationId": 99870
      }
    ]
  },
  "type": "amino-acid"
}