{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA252605",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_861463.1:p.Gly142Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008292",
          "hgvs": "NM_181798.1:c.425G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184390"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18184[alleleid]",
        "alleleId": 18184,
        "preferredName": "NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3145",
        "RCV": [
          "RCV000003295",
          "RCV000046133",
          "RCV000057766",
          "RCV000182119",
          "RCV002415391",
          "RCV004540987"
        ],
        "variationId": 3145
      }
    ]
  },
  "type": "amino-acid"
}