{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829370046",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "M",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NP_002229.1:p.Met694Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1379742",
          "hgvs": "NM_002238.4:c.2081T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168108"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1662239[alleleid]",
        "alleleId": 1662239,
        "preferredName": "NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1600068",
        "RCV": [
          "RCV002132119",
          "RCV003025435",
          "RCV003224614"
        ],
        "variationId": 1600068
      }
    ]
  },
  "type": "amino-acid"
}