{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA243475",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 100,
          "referenceAllele": "R",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NP_065873.2:p.Arg100Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA243474",
          "hgvs": "NM_020822.3:c.299G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177145"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193663[alleleid]",
        "alleleId": 193663,
        "preferredName": "NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196502",
        "RCV": [
          "RCV000177321",
          "RCV001852188"
        ],
        "variationId": 196502
      }
    ]
  },
  "type": "amino-acid"
}