{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830345064",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 535,
          "referenceAllele": "R",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NP_742104.1:p.Arg535Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA315465",
          "hgvs": "NM_172106.3:c.1604G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183165"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34619[alleleid]",
        "alleleId": 34619,
        "preferredName": "NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21767",
        "RCV": [
          "RCV000187913",
          "RCV000678060",
          "RCV001248564"
        ],
        "variationId": 21767
      }
    ]
  },
  "type": "amino-acid"
}