{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828065146",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 125,
          "referenceAllele": "M",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001349711.1:p.Met125Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10324961",
          "hgvs": "NM_001362782.2:c.375G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412177199",
          "hgvs": "NM_001362782.2:c.375G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412177201",
          "hgvs": "NM_001362782.2:c.375G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660999"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1224113[alleleid]",
        "alleleId": 1224113,
        "preferredName": "NM_000487.6(ARSA):c.633G>A (p.Met211Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1232405",
        "RCV": [
          "RCV001620225",
          "RCV001866259"
        ],
        "variationId": 1232405
      }
    ]
  },
  "type": "amino-acid"
}