{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916062538",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "G",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NP_742107.1:p.Gly279Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10654814",
          "hgvs": "NM_172109.3:c.835G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183168"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=354011[alleleid]",
        "alleleId": 354011,
        "preferredName": "NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369765",
        "RCV": [
          "RCV000678142",
          "RCV002436227",
          "RCV003315342",
          "RCV003387836"
        ],
        "variationId": 369765
      }
    ]
  },
  "type": "amino-acid"
}