{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826056413",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 94,
          "referenceAllele": "K",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030881",
      "geneNCBI_id": 79868,
      "geneSymbol": "ALG13",
      "hgvs": [
        "NP_001161857.1:p.Lys94Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334441456",
          "hgvs": "NM_001168385.2:c.280A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155570"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48374[alleleid]",
        "alleleId": 48374,
        "preferredName": "NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39775",
        "RCV": [
          "RCV000032994"
        ],
        "variationId": 39775
      }
    ]
  },
  "type": "amino-acid"
}