{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825518335",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 246,
          "referenceAllele": "R",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001078894.2:p.Arg246Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412176470",
          "hgvs": "NM_001085425.3:c.737G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150936"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2749007[alleleid]",
        "alleleId": 2749007,
        "preferredName": "NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2581426",
        "RCV": [
          "RCV003331831",
          "RCV003777393"
        ],
        "variationId": 2581426
      }
    ]
  },
  "type": "amino-acid"
}