{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826447195",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_001244894.1:p.Cys1157Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA228041",
          "hgvs": "NM_001257965.2:c.3469T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160112"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20776[alleleid]",
        "alleleId": 20776,
        "preferredName": "NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5737",
        "RCV": [
          "RCV000006091",
          "RCV000086346"
        ],
        "variationId": 5737
      }
    ]
  },
  "type": "amino-acid"
}