{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830344680",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "Y",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NP_742104.1:p.Tyr284Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340673",
          "hgvs": "NM_172106.3:c.851A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183165"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22420[alleleid]",
        "alleleId": 22420,
        "preferredName": "NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7381",
        "RCV": [
          "RCV000007806",
          "RCV003315290"
        ],
        "variationId": 7381
      }
    ]
  },
  "type": "amino-acid"
}