{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645408583",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 947,
          "referenceAllele": "K",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NP_065873.2:p.Lys947Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044324",
          "hgvs": "NM_020822.3:c.2839A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177145"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362337[alleleid]",
        "alleleId": 362337,
        "preferredName": "NM_020822.3(KCNT1):c.2839A>G (p.Lys947Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375526",
        "RCV": [
          "RCV000416995"
        ],
        "variationId": 375526
      }
    ]
  },
  "type": "amino-acid"
}