{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827690259",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 298,
          "referenceAllele": "S",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NP_001339850.1:p.Ser298Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129225",
          "hgvs": "NM_001352921.3:c.892T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625699"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39416[alleleid]",
        "alleleId": 39416,
        "preferredName": "NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30459",
        "RCV": [
          "RCV000023412",
          "RCV000078357",
          "RCV000326423",
          "RCV001003995",
          "RCV001030818",
          "RCV001837443"
        ],
        "variationId": 30459
      }
    ]
  },
  "type": "amino-acid"
}