{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA350861",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 321,
          "referenceAllele": "P",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_861463.1:p.Pro321Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA028774",
          "hgvs": "NM_181798.1:c.962C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222140[alleleid]",
        "alleleId": 222140,
        "preferredName": "NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219923",
        "RCV": [
          "RCV000206878",
          "RCV002381704",
          "RCV003591714"
        ],
        "variationId": 219923
      }
    ]
  },
  "type": "amino-acid"
}