{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3089136950",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 73,
          "referenceAllele": "H",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NP_001121141.1:p.His73Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410198250",
          "hgvs": "NM_001127669.4:c.217C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152145"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3533542[alleleid]",
        "alleleId": 3533542,
        "preferredName": "NM_000219.6(KCNE1):c.217C>A (p.His73Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3374354",
        "RCV": [
          "RCV004781618"
        ],
        "variationId": 3374354
      }
    ]
  },
  "type": "amino-acid"
}