{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057316119",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 88,
          "referenceAllele": "Q",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NP_001257334.1:p.Gln88Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA320425226",
          "hgvs": "NM_001270405.3:c.262C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160731"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3533659[alleleid]",
        "alleleId": 3533659,
        "preferredName": "NM_000219.6(KCNE1):c.262C>A (p.Gln88Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3374471",
        "RCV": [
          "RCV004781735"
        ],
        "variationId": 3374471
      }
    ]
  },
  "type": "amino-acid"
}