{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499303546",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 108,
          "referenceAllele": "E",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NP_938011.1:p.Glu108Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10358432",
          "hgvs": "NM_198270.4:c.322G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185012"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1159501[alleleid]",
        "alleleId": 1159501,
        "preferredName": "NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1165696",
        "RCV": [
          "RCV001513032",
          "RCV002070289",
          "RCV002564315",
          "RCV003940907"
        ],
        "variationId": 1165696
      }
    ]
  },
  "type": "amino-acid"
}