{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916018563",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 2598,
          "referenceAllele": "G",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NP_001278938.1:p.Gly2598Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270063",
          "hgvs": "NM_001292009.1:c.7793G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164904"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152829[alleleid]",
        "alleleId": 152829,
        "preferredName": "NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143111",
        "RCV": [
          "RCV000132632",
          "RCV003888556",
          "RCV003323413"
        ],
        "variationId": 143111
      }
    ]
  },
  "type": "amino-acid"
}