{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA329592",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "M",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NP_000229.1:p.Met291Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008928",
          "hgvs": "NM_000238.4:c.872T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146786"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78433[alleleid]",
        "alleleId": 78433,
        "preferredName": "NM_000238.4(KCNH2):c.872T>C (p.Met291Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67537",
        "RCV": [
          "RCV000058266",
          "RCV000820872",
          "RCV002483102",
          "RCV003162450"
        ],
        "variationId": 67537
      }
    ]
  },
  "type": "amino-acid"
}