{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826547892",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 431,
          "referenceAllele": "W",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NP_001258932.1:p.Trp431Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10588472",
          "hgvs": "NM_001272003.2:c.1291T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375505194",
          "hgvs": "NM_001272003.2:c.1291T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161235"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259919[alleleid]",
        "alleleId": 259919,
        "preferredName": "NM_020822.3(KCNT1):c.1426T>C (p.Trp476Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265211",
        "RCV": [
          "RCV000254881"
        ],
        "variationId": 265211
      }
    ]
  },
  "type": "amino-acid"
}