{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830389845",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 118,
          "referenceAllele": "G",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_861463.1:p.Gly118Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379130984",
          "hgvs": "NM_181798.1:c.352G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379130985",
          "hgvs": "NM_181798.1:c.352G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=926184[alleleid]",
        "alleleId": 926184,
        "preferredName": "NM_000218.3(KCNQ1):c.733G>A (p.Gly245Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4019045[alleleid]",
        "alleleId": 4019045,
        "preferredName": "NM_000218.3(KCNQ1):c.733G>C (p.Gly245Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/950580",
        "RCV": [
          "RCV001222321"
        ],
        "variationId": 950580
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3903171",
        "RCV": [
          "RCV005423453"
        ],
        "variationId": 3903171
      }
    ]
  },
  "type": "amino-acid"
}