{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825519286",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 428,
          "referenceAllele": "P",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001078895.2:p.Pro428Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115956",
          "hgvs": "NM_001085426.3:c.1283C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150937"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18091[alleleid]",
        "alleleId": 18091,
        "preferredName": "NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3052",
        "RCV": [
          "RCV000003197",
          "RCV000003195",
          "RCV000003196",
          "RCV000020314",
          "RCV000392246",
          "RCV001251909"
        ],
        "variationId": 3052
      }
    ]
  },
  "type": "amino-acid"
}