{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104496",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 435,
          "referenceAllele": "S",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NP_061971.3:p.Ser435Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340371",
          "hgvs": "NM_019098.5:c.1304C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176615"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20261[alleleid]",
        "alleleId": 20261,
        "preferredName": "NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5222",
        "RCV": [
          "RCV000005532",
          "RCV001243215"
        ],
        "variationId": 5222
      }
    ]
  },
  "type": "amino-acid"
}