{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827785967",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1269,
          "referenceAllele": "V",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001340887.1:p.Val1269Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349053504",
          "hgvs": "NM_001353958.2:c.3805G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618015"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1207492[alleleid]",
        "alleleId": 1207492,
        "preferredName": "NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1217508",
        "RCV": [
          "RCV001588181",
          "RCV001866210",
          "RCV002275213"
        ],
        "variationId": 1217508
      }
    ]
  },
  "type": "amino-acid"
}