{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826104254",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 159,
          "referenceAllele": "E",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004837",
      "geneNCBI_id": 3052,
      "geneSymbol": "HCCS",
      "hgvs": [
        "NP_001165462.1:p.Glu159Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342082",
          "hgvs": "NM_001171991.3:c.475G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155881"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34296[alleleid]",
        "alleleId": 34296,
        "preferredName": "NM_005333.5(HCCS):c.475G>A (p.Glu159Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21444",
        "RCV": [
          "RCV000020630"
        ],
        "variationId": 21444
      }
    ]
  },
  "type": "amino-acid"
}