{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827689875",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NP_001339850.1:p.Met1Thr"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625699"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=482159[alleleid]",
        "alleleId": 482159,
        "preferredName": "NM_000199.5(SGSH):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488839",
        "RCV": [
          "RCV000578657",
          "RCV000664735"
        ],
        "variationId": 488839
      }
    ]
  },
  "type": "amino-acid"
}