{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA214120",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 648,
          "referenceAllele": "V",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Val648Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006603",
          "hgvs": "NM_000218.3:c.1942G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45101[alleleid]",
        "alleleId": 45101,
        "preferredName": "NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36438",
        "RCV": [
          "RCV000057651",
          "RCV000229585",
          "RCV000281357",
          "RCV000216406",
          "RCV000316585",
          "RCV000386352",
          "RCV000375847",
          "RCV000622132",
          "RCV001093942",
          "RCV001841536"
        ],
        "variationId": 36438
      }
    ]
  },
  "type": "amino-acid"
}