{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110598",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 249,
          "referenceAllele": "F",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006218",
      "geneNCBI_id": 3736,
      "geneSymbol": "KCNA1",
      "hgvs": [
        "NP_000208.2:p.Phe249Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256877",
          "hgvs": "NM_000217.3:c.745T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146766"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28522[alleleid]",
        "alleleId": 28522,
        "preferredName": "NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13483",
        "RCV": [
          "RCV000014427"
        ],
        "variationId": 13483
      }
    ]
  },
  "type": "amino-acid"
}