{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826192388",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 793,
          "referenceAllele": "R",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_001180569.1:p.Arg793Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1312195",
          "hgvs": "NM_001193640.2:c.2378G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156933"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227208[alleleid]",
        "alleleId": 227208,
        "preferredName": "NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225327",
        "RCV": [
          "RCV000262643",
          "RCV000329706",
          "RCV000490294",
          "RCV000946241",
          "RCV001275655",
          "RCV003888643"
        ],
        "variationId": 225327
      }
    ]
  },
  "type": "amino-acid"
}