{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830284487",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 236,
          "referenceAllele": "N",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NP_653207.1:p.Asn236Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA398533958",
          "hgvs": "NM_144606.7:c.707A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181651"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=477967[alleleid]",
        "alleleId": 477967,
        "preferredName": "NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/485602",
        "RCV": [
          "RCV000570714",
          "RCV000692706",
          "RCV002491136"
        ],
        "variationId": 485602
      }
    ]
  },
  "type": "amino-acid"
}