{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3089134389",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 298,
          "referenceAllele": "E",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001349711.1:p.Glu298Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412170299",
          "hgvs": "NM_001362782.2:c.892G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660999"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4177992[alleleid]",
        "alleleId": 4177992,
        "preferredName": "NM_000487.6(ARSA):c.1150G>C (p.Glu384Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4060930",
        "RCV": [
          "RCV005608079"
        ],
        "variationId": 4060930
      }
    ]
  },
  "type": "amino-acid"
}