{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826548429",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 905,
          "referenceAllele": "R",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NP_001258932.1:p.Arg905Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10605542",
          "hgvs": "NM_001272003.2:c.2714G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161235"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=270947[alleleid]",
        "alleleId": 270947,
        "preferredName": "NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286710",
        "RCV": [
          "RCV000498228",
          "RCV000650627",
          "RCV001004680",
          "RCV001420735",
          "RCV004021207"
        ],
        "variationId": 286710
      }
    ]
  },
  "type": "amino-acid"
}