{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA106970",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 43,
          "referenceAllele": "E",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NP_002755.1:p.Glu43Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340958",
          "hgvs": "NM_002764.4:c.129A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413804202",
          "hgvs": "NM_002764.4:c.129A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168595"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24973[alleleid]",
        "alleleId": 24973,
        "preferredName": "NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9934",
        "RCV": [
          "RCV000010612"
        ],
        "variationId": 9934
      }
    ]
  },
  "type": "amino-acid"
}