{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830347134",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 529,
          "referenceAllele": "R",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NP_742106.1:p.Arg529Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA409643815",
          "hgvs": "NM_172108.3:c.1586G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183167"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2931451[alleleid]",
        "alleleId": 2931451,
        "preferredName": "NM_172107.4(KCNQ2):c.1679G>T (p.Arg560Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2764248",
        "RCV": [
          "RCV003590355"
        ],
        "variationId": 2764248
      }
    ]
  },
  "type": "amino-acid"
}