{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645482782",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 6068,
          "referenceAllele": "L",
          "start": 6067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NP_892006.3:p.Leu6068Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4055035",
          "hgvs": "NM_182961.4:c.18204G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA366096967",
          "hgvs": "NM_182961.4:c.18204G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184702"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=252175[alleleid]",
        "alleleId": 252175,
        "preferredName": "NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/262173",
        "RCV": [
          "RCV000248584",
          "RCV000725762",
          "RCV001087053"
        ],
        "variationId": 262173
      }
    ]
  },
  "type": "amino-acid"
}