{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111321",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 266,
          "referenceAllele": "L",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Leu266Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008262",
          "hgvs": "NM_000218.3:c.797T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67776[alleleid]",
        "alleleId": 67776,
        "preferredName": "NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53108",
        "RCV": [
          "RCV000046131",
          "RCV000057763",
          "RCV000182116",
          "RCV000250332",
          "RCV002483053"
        ],
        "variationId": 53108
      }
    ]
  },
  "type": "amino-acid"
}