{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093084",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 525,
          "referenceAllele": "P",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012509",
      "geneNCBI_id": 29978,
      "geneSymbol": "UBQLN2",
      "hgvs": [
        "NP_038472.2:p.Pro525Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259711",
          "hgvs": "NM_013444.4:c.1573C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173349"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38909[alleleid]",
        "alleleId": 38909,
        "preferredName": "NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29954",
        "RCV": [
          "RCV000022846",
          "RCV000625776",
          "RCV003944836",
          "RCV003441723"
        ],
        "variationId": 29954
      }
    ]
  },
  "type": "amino-acid"
}