{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104758",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 217,
          "referenceAllele": "K",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NP_758872.1:p.Lys217Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215050",
          "hgvs": "NM_172362.3:c.651G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344876371",
          "hgvs": "NM_172362.3:c.651G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183251"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172196[alleleid]",
        "alleleId": 172196,
        "preferredName": "NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162523",
        "RCV": [
          "RCV000149913"
        ],
        "variationId": 162523
      }
    ]
  },
  "type": "amino-acid"
}