{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825519989",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "referenceAllele": "E",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001078897.1:p.Glu169Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412176286",
          "hgvs": "NM_001085428.3:c.506A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150939"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2912600[alleleid]",
        "alleleId": 2912600,
        "preferredName": "NM_000487.6(ARSA):c.764A>C (p.Glu255Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2749259",
        "RCV": [
          "RCV003502002"
        ],
        "variationId": 2749259
      }
    ]
  },
  "type": "amino-acid"
}