{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA257241",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 582,
          "referenceAllele": "R",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NP_742053.1:p.Arg582Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA005345",
          "hgvs": "NM_172056.2:c.1744C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183142"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29467[alleleid]",
        "alleleId": 29467,
        "preferredName": "NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14428",
        "RCV": [
          "RCV000057970",
          "RCV000181815",
          "RCV000537059",
          "RCV002399326",
          "RCV000015509"
        ],
        "variationId": 14428
      }
    ]
  },
  "type": "amino-acid"
}