{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139751394",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 206,
          "referenceAllele": "R",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "NP_598004.1:p.Arg206Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4965539",
          "hgvs": "NM_133497.4:c.617G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181072"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=901817[alleleid]",
        "alleleId": 901817,
        "preferredName": "NM_133497.4(KCNV2):c.617G>A (p.Arg206Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/912729",
        "RCV": [
          "RCV001166088",
          "RCV001873542",
          "RCV004032883"
        ],
        "variationId": 912729
      }
    ]
  },
  "type": "amino-acid"
}