{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110969",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 555,
          "referenceAllele": "R",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Arg555His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006147",
          "hgvs": "NM_000218.3:c.1664G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67671[alleleid]",
        "alleleId": 67671,
        "preferredName": "NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53003",
        "RCV": [
          "RCV000046012",
          "RCV000057614",
          "RCV000182212",
          "RCV000619418",
          "RCV003591637",
          "RCV002483049",
          "RCV003319308"
        ],
        "variationId": 53003
      }
    ]
  },
  "type": "amino-acid"
}