{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825090640",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 127,
          "referenceAllele": "P",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NP_000210.2:p.Pro127Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410197898",
          "hgvs": "NM_000219.5:c.379C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146768"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2979125[alleleid]",
        "alleleId": 2979125,
        "preferredName": "NM_000219.6(KCNE1):c.379C>T (p.Pro127Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2824451",
        "RCV": [
          "RCV003648282"
        ],
        "variationId": 2824451
      }
    ]
  },
  "type": "amino-acid"
}