{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106299",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 447,
          "referenceAllele": "E",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NP_000190.1:p.Glu447Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117263",
          "hgvs": "NM_000199.5:c.1339G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20153[alleleid]",
        "alleleId": 20153,
        "preferredName": "NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5114",
        "RCV": [
          "RCV000005421",
          "RCV000413635",
          "RCV000624626"
        ],
        "variationId": 5114
      }
    ]
  },
  "type": "amino-acid"
}