{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825403858",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 509,
          "referenceAllele": "E",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NP_001035931.1:p.Glu509Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5547324",
          "hgvs": "NM_001042466.3:c.1525G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150176"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2112356[alleleid]",
        "alleleId": 2112356,
        "preferredName": "NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2054474",
        "RCV": [
          "RCV002928022",
          "RCV003883853"
        ],
        "variationId": 2054474
      }
    ]
  },
  "type": "amino-acid"
}