{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826511793",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 59,
          "referenceAllele": "L",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NP_001257332.1:p.Leu59Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA331935",
          "hgvs": "NM_001270403.2:c.176T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136407[alleleid]",
        "alleleId": 136407,
        "preferredName": "NM_000219.6(KCNE1):c.176T>C (p.Leu59Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132659",
        "RCV": [
          "RCV000119071",
          "RCV000455708"
        ],
        "variationId": 132659
      }
    ]
  },
  "type": "amino-acid"
}