{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826446389",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_001244894.1:p.Cys325Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA235768",
          "hgvs": "NM_001257965.2:c.973T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160112"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188796[alleleid]",
        "alleleId": 188796,
        "preferredName": "NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190990",
        "RCV": [
          "RCV000171163",
          "RCV001257859",
          "RCV003765070",
          "RCV004527365"
        ],
        "variationId": 190990
      }
    ]
  },
  "type": "amino-acid"
}