{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139683555",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "R",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NP_001138763.2:p.Arg100Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2793903",
          "hgvs": "NM_001145291.2:c.298C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739131"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=892003[alleleid]",
        "alleleId": 892003,
        "preferredName": "NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/903745",
        "RCV": [
          "RCV001151256",
          "RCV001151257",
          "RCV002070830"
        ],
        "variationId": 903745
      }
    ]
  },
  "type": "amino-acid"
}