{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825518794",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 86,
          "referenceAllele": "R",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001078895.2:p.Arg86Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115965",
          "hgvs": "NM_001085426.3:c.257G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150937"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34038[alleleid]",
        "alleleId": 34038,
        "preferredName": "NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21186",
        "RCV": [
          "RCV000003205",
          "RCV000020316",
          "RCV000723563"
        ],
        "variationId": 21186
      }
    ]
  },
  "type": "amino-acid"
}