{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA270030",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 299,
          "referenceAllele": "L",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NP_000545.1:p.Leu299Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270029",
          "hgvs": "NM_000554.6:c.897G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406632159",
          "hgvs": "NM_000554.6:c.897G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147089"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152804[alleleid]",
        "alleleId": 152804,
        "preferredName": "NM_000554.6(CRX):c.897G>C (p.Leu299Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143086",
        "RCV": [
          "RCV000132605",
          "RCV003888548"
        ],
        "variationId": 143086
      }
    ]
  },
  "type": "amino-acid"
}