{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA249088",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 476,
          "referenceAllele": "V",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "NP_001106212.1:p.Val476Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA249087",
          "hgvs": "NM_001112741.2:c.1426G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151694"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=215431[alleleid]",
        "alleleId": 215431,
        "preferredName": "NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218659",
        "RCV": [
          "RCV000202888",
          "RCV000690137",
          "RCV001289075",
          "RCV002311317"
        ],
        "variationId": 218659
      }
    ]
  },
  "type": "amino-acid"
}