{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915970676",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 249,
          "referenceAllele": "F",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001078896.2:p.Phe249Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA219054",
          "hgvs": "NM_001085427.3:c.746T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150938"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79040[alleleid]",
        "alleleId": 79040,
        "preferredName": "NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68149",
        "RCV": [
          "RCV000058980",
          "RCV000524971"
        ],
        "variationId": 68149
      }
    ]
  },
  "type": "amino-acid"
}