{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826446324",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 264,
          "referenceAllele": "G",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_001244894.1:p.Gly264Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA170860",
          "hgvs": "NM_001257965.2:c.791G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160112"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166165[alleleid]",
        "alleleId": 166165,
        "preferredName": "NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156384",
        "RCV": [
          "RCV000144466",
          "RCV003764878"
        ],
        "variationId": 156384
      }
    ]
  },
  "type": "amino-acid"
}