{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645408539",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 437,
          "referenceAllele": "L",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NP_065873.2:p.Leu437Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042762",
          "hgvs": "NM_020822.3:c.1309C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177145"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359903[alleleid]",
        "alleleId": 359903,
        "preferredName": "NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372907",
        "RCV": [
          "RCV000413029",
          "RCV001865289"
        ],
        "variationId": 372907
      }
    ]
  },
  "type": "amino-acid"
}