{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA246727",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 209,
          "referenceAllele": "E",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NP_009185.2:p.Glu209Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246726",
          "hgvs": "NM_007254.4:c.625G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195359[alleleid]",
        "alleleId": 195359,
        "preferredName": "NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198198",
        "RCV": [
          "RCV000232964",
          "RCV000179469",
          "RCV002516792",
          "RCV002485174"
        ],
        "variationId": 198198
      }
    ]
  },
  "type": "amino-acid"
}