{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827402669",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 639,
          "referenceAllele": "E",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NP_001334631.1:p.Glu639Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115488",
          "hgvs": "NM_001347702.2:c.1915G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624740"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17373[alleleid]",
        "alleleId": 17373,
        "preferredName": "NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2334",
        "RCV": [
          "RCV000002424",
          "RCV000535163",
          "RCV000713651",
          "RCV000987800",
          "RCV001002110",
          "RCV001252121"
        ],
        "variationId": 2334
      }
    ]
  },
  "type": "amino-acid"
}