{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA315594",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "R",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "NP_004510.1:p.Arg230Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA315593",
          "hgvs": "NM_004519.4:c.688C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170218"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202181[alleleid]",
        "alleleId": 202181,
        "preferredName": "NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205963",
        "RCV": [
          "RCV000187968",
          "RCV000210407",
          "RCV000824975",
          "RCV000824686",
          "RCV001042557",
          "RCV001249311",
          "RCV001263326",
          "RCV001257743",
          "RCV002273976",
          "RCV003223394"
        ],
        "variationId": 205963
      }
    ]
  },
  "type": "amino-acid"
}