{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916002175",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 36,
          "referenceAllele": "R",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NP_001257334.1:p.Arg36His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA331911",
          "hgvs": "NM_001270405.3:c.107G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160731"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136398[alleleid]",
        "alleleId": 136398,
        "preferredName": "NM_000219.6(KCNE1):c.107G>A (p.Arg36His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132650",
        "RCV": [
          "RCV000119062",
          "RCV000605056",
          "RCV000590868",
          "RCV000866274",
          "RCV004019655"
        ],
        "variationId": 132650
      }
    ]
  },
  "type": "amino-acid"
}