{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830344818",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 353,
          "referenceAllele": "R",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NP_742104.1:p.Arg353Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA315430",
          "hgvs": "NM_172106.3:c.1057C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183165"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203760[alleleid]",
        "alleleId": 203760,
        "preferredName": "NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205898",
        "RCV": [
          "RCV000517065",
          "RCV000187895",
          "RCV000694219",
          "RCV003223393"
        ],
        "variationId": 205898
      }
    ]
  },
  "type": "amino-acid"
}