{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111463",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 448,
          "referenceAllele": "P",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Pro448Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA005620",
          "hgvs": "NM_000218.3:c.1343C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77922[alleleid]",
        "alleleId": 77922,
        "preferredName": "NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67026",
        "RCV": [
          "RCV000057578",
          "RCV000155365",
          "RCV000171758",
          "RCV000252693",
          "RCV001102908",
          "RCV001102907",
          "RCV001093977",
          "RCV001102906",
          "RCV001841662"
        ],
        "variationId": 67026
      }
    ]
  },
  "type": "amino-acid"
}