{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA305662",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_861463.1:p.Gly189Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008823",
          "hgvs": "NM_181798.1:c.565G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA008832",
          "hgvs": "NM_181798.1:c.565G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67810[alleleid]",
        "alleleId": 67810,
        "preferredName": "NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67811[alleleid]",
        "alleleId": 67811,
        "preferredName": "NM_000218.3(KCNQ1):c.946G>C (p.Gly316Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53142",
        "RCV": [
          "RCV000057818",
          "RCV000182139",
          "RCV001368547",
          "RCV003327365"
        ],
        "variationId": 53142
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53143",
        "RCV": [
          "RCV000057819"
        ],
        "variationId": 53143
      }
    ]
  },
  "type": "amino-acid"
}