{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580511723",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 289,
          "referenceAllele": "E",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NP_742053.1:p.Glu289Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA369862224",
          "hgvs": "NM_172056.2:c.865G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183142"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1817347[alleleid]",
        "alleleId": 1817347,
        "preferredName": "NM_000238.4(KCNH2):c.865G>C (p.Glu289Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1764220",
        "RCV": [
          "RCV002449656",
          "RCV003647912"
        ],
        "variationId": 1764220
      }
    ]
  },
  "type": "amino-acid"
}