{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645486211",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1006,
          "referenceAllele": "S",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_957705.1:p.Ser1006Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10581632",
          "hgvs": "NM_201253.3:c.3017C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185489"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237975[alleleid]",
        "alleleId": 237975,
        "preferredName": "NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236473",
        "RCV": [
          "RCV000225544",
          "RCV002519764"
        ],
        "variationId": 236473
      }
    ]
  },
  "type": "amino-acid"
}