{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092044",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 91,
          "referenceAllele": "R",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NP_000320.1:p.Arg91Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA226533",
          "hgvs": "NM_000329.3:c.272G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146874"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104747[alleleid]",
        "alleleId": 104747,
        "preferredName": "NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98857",
        "RCV": [
          "RCV000085186",
          "RCV002247485",
          "RCV003242980",
          "RCV003764791",
          "RCV001061074",
          "RCV001275336",
          "RCV001731373"
        ],
        "variationId": 98857
      }
    ]
  },
  "type": "amino-acid"
}