{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826548384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 865,
          "referenceAllele": "R",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NP_001258932.1:p.Arg865Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354199",
          "hgvs": "NM_001272003.2:c.2594G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161235"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=225839[alleleid]",
        "alleleId": 225839,
        "preferredName": "NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224109",
        "RCV": [
          "RCV000209930",
          "RCV000355238",
          "RCV000712126",
          "RCV002315641",
          "RCV003927889",
          "RCV001080368",
          "RCV002270025"
        ],
        "variationId": 224109
      }
    ]
  },
  "type": "amino-acid"
}