{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645438024",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 357,
          "referenceAllele": "R",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NP_758872.1:p.Arg357Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10602773",
          "hgvs": "NM_172362.3:c.1070G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183251"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=263996[alleleid]",
        "alleleId": 263996,
        "preferredName": "NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279981",
        "RCV": [
          "RCV000354221",
          "RCV000624249",
          "RCV001003573",
          "RCV001262681",
          "RCV001251120",
          "RCV002274967",
          "RCV004547654"
        ],
        "variationId": 279981
      }
    ]
  },
  "type": "amino-acid"
}