{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825139639",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 247,
          "referenceAllele": "F",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NP_000274.3:p.Phe247Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2794105",
          "hgvs": "NM_000283.4:c.739T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738268"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=299186[alleleid]",
        "alleleId": 299186,
        "preferredName": "NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349362",
        "RCV": [
          "RCV000377308",
          "RCV001376332",
          "RCV000504695",
          "RCV001543444"
        ],
        "variationId": 349362
      }
    ]
  },
  "type": "amino-acid"
}