{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104580",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54,
          "referenceAllele": "M",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006242",
      "geneNCBI_id": 9992,
      "geneSymbol": "KCNE2",
      "hgvs": [
        "NP_751951.1:p.Met54Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253741",
          "hgvs": "NM_172201.2:c.161T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183199"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21092[alleleid]",
        "alleleId": 21092,
        "preferredName": "NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6053",
        "RCV": [
          "RCV000006425",
          "RCV000058360",
          "RCV000212497",
          "RCV000407848",
          "RCV001841228",
          "RCV002399310"
        ],
        "variationId": 6053
      }
    ]
  },
  "type": "amino-acid"
}