{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 273,
          "referenceAllele": "D",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NP_000190.1:p.Asp273Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294892403",
          "hgvs": "NM_000199.5:c.817G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548857[alleleid]",
        "alleleId": 548857,
        "preferredName": "NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553454",
        "RCV": [
          "RCV000668913",
          "RCV000781846"
        ],
        "variationId": 553454
      }
    ]
  },
  "type": "amino-acid"
}