{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829807362",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1616,
          "referenceAllele": "F",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017084",
      "geneNCBI_id": 23224,
      "geneSymbol": "SYNE2",
      "hgvs": [
        "NP_055995.4:p.Phe1616Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA244657",
          "hgvs": "NM_015180.5:c.4846T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA7220319",
          "hgvs": "NM_015180.5:c.4848T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389937467",
          "hgvs": "NM_015180.5:c.4848T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174345"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194040[alleleid]",
        "alleleId": 194040,
        "preferredName": "NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196879",
        "RCV": [
          "RCV000177756",
          "RCV001112395",
          "RCV004020116"
        ],
        "variationId": 196879
      }
    ]
  },
  "type": "amino-acid"
}