{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830284312",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 166,
          "referenceAllele": "F",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NP_653207.1:p.Phe166Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA288317129",
          "hgvs": "NM_144606.7:c.498C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA398534425",
          "hgvs": "NM_144606.7:c.498C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA398534430",
          "hgvs": "NM_144606.7:c.496T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181651"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=467195[alleleid]",
        "alleleId": 467195,
        "preferredName": "NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/460618",
        "RCV": [
          "RCV000553117",
          "RCV001023371",
          "RCV001574889",
          "RCV002483392"
        ],
        "variationId": 460618
      }
    ]
  },
  "type": "amino-acid"
}