{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741868206",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52,
          "referenceAllele": "P",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_001349711.1:p.Pro52Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325531576",
          "hgvs": "NM_001362782.2:c.154C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660999"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3021127[alleleid]",
        "alleleId": 3021127,
        "preferredName": "NM_000487.6(ARSA):c.412C>G (p.Pro138Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2870118",
        "RCV": [
          "RCV003608448"
        ],
        "variationId": 2870118
      }
    ]
  },
  "type": "amino-acid"
}