{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829530227",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 247,
          "referenceAllele": "S",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NP_004509.2:p.Ser247Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA315383",
          "hgvs": "NM_004518.5:c.740C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170217"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203782[alleleid]",
        "alleleId": 203782,
        "preferredName": "NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205878",
        "RCV": [
          "RCV000187872",
          "RCV000622359",
          "RCV002470804",
          "RCV002517872",
          "RCV003992216"
        ],
        "variationId": 205878
      }
    ]
  },
  "type": "amino-acid"
}