{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110996",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 594,
          "referenceAllele": "R",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Arg594Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006388",
          "hgvs": "NM_000218.3:c.1781G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67686[alleleid]",
        "alleleId": 67686,
        "preferredName": "NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53018",
        "RCV": [
          "RCV000046031",
          "RCV000057637",
          "RCV000182228",
          "RCV000247524",
          "RCV001258107",
          "RCV001731336",
          "RCV003224128",
          "RCV002496702",
          "RCV003591639"
        ],
        "variationId": 53018
      }
    ]
  },
  "type": "amino-acid"
}