{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA228955",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 33,
          "referenceAllele": "R",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_957705.1:p.Arg33Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA228954",
          "hgvs": "NM_201253.3:c.99G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA1311579",
          "hgvs": "NM_201253.3:c.99G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185489"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106486[alleleid]",
        "alleleId": 106486,
        "preferredName": "NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100609",
        "RCV": [
          "RCV000087005",
          "RCV000309890",
          "RCV000346080",
          "RCV000391581",
          "RCV001082725"
        ],
        "variationId": 100609
      }
    ]
  },
  "type": "amino-acid"
}