{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827291591",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 842,
          "referenceAllele": "V",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010596",
      "geneNCBI_id": 6334,
      "geneSymbol": "SCN8A",
      "hgvs": [
        "NP_001317189.1:p.Val842Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384884736",
          "hgvs": "NM_001330260.2:c.2525T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648069"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415345[alleleid]",
        "alleleId": 415345,
        "preferredName": "NM_001330260.2(SCN8A):c.2525T>A (p.Val842Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427069",
        "RCV": [
          "RCV000489752"
        ],
        "variationId": 427069
      }
    ]
  },
  "type": "amino-acid"
}