{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827690167",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 225,
          "referenceAllele": "F",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NP_001339850.1:p.Phe225Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8817846",
          "hgvs": "NM_001352921.3:c.675C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16607531",
          "hgvs": "NM_001352921.3:c.673T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401361547",
          "hgvs": "NM_001352921.3:c.675C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625699"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237044[alleleid]",
        "alleleId": 237044,
        "preferredName": "NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=375756[alleleid]",
        "alleleId": 375756,
        "preferredName": "NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235357",
        "RCV": [
          "RCV000224603",
          "RCV000675098"
        ],
        "variationId": 235357
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/383967",
        "RCV": [
          "RCV000426187",
          "RCV000489872"
        ],
        "variationId": 383967
      }
    ]
  },
  "type": "amino-acid"
}