{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826511851",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 74,
          "referenceAllele": "S",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NP_001257332.1:p.Ser74Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256871",
          "hgvs": "NM_001270403.2:c.221C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28517[alleleid]",
        "alleleId": 28517,
        "preferredName": "NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13478",
        "RCV": [
          "RCV000014421",
          "RCV000603252",
          "RCV000119079",
          "RCV003318541",
          "RCV000471661",
          "RCV004017244",
          "RCV002482866"
        ],
        "variationId": 13478
      }
    ]
  },
  "type": "amino-acid"
}