{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825099165",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 783,
          "referenceAllele": "S",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NP_000229.1:p.Ser783Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA369856065",
          "hgvs": "NM_000238.4:c.2348C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146786"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2982961[alleleid]",
        "alleleId": 2982961,
        "preferredName": "NM_000238.4(KCNH2):c.2348C>A (p.Ser783Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2825728",
        "RCV": [
          "RCV003648296"
        ],
        "variationId": 2825728
      }
    ]
  },
  "type": "amino-acid"
}