{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826547682",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 233,
          "referenceAllele": "L",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NP_001258932.1:p.Leu233Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375498292",
          "hgvs": "NM_001272003.2:c.697C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161235"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1677915[alleleid]",
        "alleleId": 1677915,
        "preferredName": "NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1685902",
        "RCV": [
          "RCV002250069",
          "RCV003222404"
        ],
        "variationId": 1685902
      }
    ]
  },
  "type": "amino-acid"
}