{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827721214",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 545,
          "referenceAllele": "D",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NP_001340159.1:p.Asp545Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA188379",
          "hgvs": "NM_001353230.2:c.1635C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA398529968",
          "hgvs": "NM_001353230.2:c.1635C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660501"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184479[alleleid]",
        "alleleId": 184479,
        "preferredName": "NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184253",
        "RCV": [
          "RCV000163471",
          "RCV000231877",
          "RCV002267903",
          "RCV001539507",
          "RCV002485010"
        ],
        "variationId": 184253
      }
    ]
  },
  "type": "amino-acid"
}