{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA218590",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 325,
          "referenceAllele": "R",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_861463.1:p.Arg325Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA005679",
          "hgvs": "NM_181798.1:c.974G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77926[alleleid]",
        "alleleId": 77926,
        "preferredName": "NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67030",
        "RCV": [
          "RCV000057583",
          "RCV000284895",
          "RCV000246256",
          "RCV000337547",
          "RCV000355198",
          "RCV000297971",
          "RCV000398200",
          "RCV000764975",
          "RCV001255594",
          "RCV001841666",
          "RCV003448257"
        ],
        "variationId": 67030
      }
    ]
  },
  "type": "amino-acid"
}