{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827496377",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "Y",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NP_001337084.1:p.Tyr475Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2795129",
          "hgvs": "NM_001350155.3:c.1424A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS646043"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=295407[alleleid]",
        "alleleId": 295407,
        "preferredName": "NM_000283.4(PDE6B):c.*79A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349403",
        "RCV": [
          "RCV000310856",
          "RCV000404576"
        ],
        "variationId": 349403
      }
    ]
  },
  "type": "amino-acid"
}