{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA214109",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 50,
          "referenceAllele": "R",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NP_000516.3:p.Arg50Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214108",
          "hgvs": "NM_000525.4:c.149G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147060"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45094[alleleid]",
        "alleleId": 45094,
        "preferredName": "NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36431",
        "RCV": [
          "RCV000030103",
          "RCV000518206",
          "RCV002222331",
          "RCV003387732"
        ],
        "variationId": 36431
      }
    ]
  },
  "type": "amino-acid"
}