{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827720042",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 69,
          "referenceAllele": "V",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NP_001340159.1:p.Val69Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8416497",
          "hgvs": "NM_001353230.2:c.205G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660501"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402296[alleleid]",
        "alleleId": 402296,
        "preferredName": "NM_144997.7(FLCN):c.205G>A (p.Val69Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/415612",
        "RCV": [
          "RCV000461839",
          "RCV000574441",
          "RCV000611358",
          "RCV001336976"
        ],
        "variationId": 415612
      }
    ]
  },
  "type": "amino-acid"
}