{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916043460",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 64,
          "referenceAllele": "P",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001349711.1:p.Pro64Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA219024",
          "hgvs": "NM_001362782.2:c.191C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645612061",
          "hgvs": "NM_001362782.2:c.190_191delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660999"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79025[alleleid]",
        "alleleId": 79025,
        "preferredName": "NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68134",
        "RCV": [
          "RCV000058965",
          "RCV000631449"
        ],
        "variationId": 68134
      }
    ]
  },
  "type": "amino-acid"
}