{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA211565",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 611,
          "referenceAllele": "D",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Asp611Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006476",
          "hgvs": "NM_000218.3:c.1831G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77955[alleleid]",
        "alleleId": 77955,
        "preferredName": "NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67059",
        "RCV": [
          "RCV000057643",
          "RCV000148559",
          "RCV000182235",
          "RCV000755676",
          "RCV000825351",
          "RCV001841678",
          "RCV004018995"
        ],
        "variationId": 67059
      }
    ]
  },
  "type": "amino-acid"
}