{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916035620",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 57,
          "referenceAllele": "S",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NP_001339851.1:p.Ser57Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401364359",
          "hgvs": "NM_001352922.2:c.171C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401364361",
          "hgvs": "NM_001352922.2:c.171C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401364372",
          "hgvs": "NM_001352922.2:c.169A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625635"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=422209[alleleid]",
        "alleleId": 422209,
        "preferredName": "NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429525",
        "RCV": [
          "RCV000494203",
          "RCV000672621",
          "RCV003235251"
        ],
        "variationId": 429525
      }
    ]
  },
  "type": "amino-acid"
}