{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA247460",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 4755,
          "referenceAllele": "L",
          "start": 4754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NP_892006.3:p.Leu4755Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247458",
          "hgvs": "NM_182961.4:c.14263C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184702"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195832[alleleid]",
        "alleleId": 195832,
        "preferredName": "NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198671",
        "RCV": [
          "RCV000180075",
          "RCV000533703",
          "RCV000316351",
          "RCV000710240",
          "RCV000714610",
          "RCV004537501"
        ],
        "variationId": 198671
      }
    ]
  },
  "type": "amino-acid"
}