{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827402559",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 473,
          "referenceAllele": "L",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NP_001334631.1:p.Leu473Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA201107",
          "hgvs": "NM_001347702.2:c.1417C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624740"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191466[alleleid]",
        "alleleId": 191466,
        "preferredName": "NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194303",
        "RCV": [
          "RCV000174640",
          "RCV000321230",
          "RCV000710252",
          "RCV001081859",
          "RCV000987801",
          "RCV002516637"
        ],
        "variationId": 194303
      }
    ]
  },
  "type": "amino-acid"
}