{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573306890",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "A",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NP_742053.1:p.Ala558Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA369858843",
          "hgvs": "NM_172056.2:c.1672G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183142"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1669511[alleleid]",
        "alleleId": 1669511,
        "preferredName": "NM_000238.4(KCNH2):c.1672G>A (p.Ala558Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1677821",
        "RCV": [
          "RCV002223502"
        ],
        "variationId": 1677821
      }
    ]
  },
  "type": "amino-acid"
}