{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499245393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 92,
          "referenceAllele": "A",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_001269607.1:p.Ala92Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4341522",
          "hgvs": "NM_001282678.2:c.274G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=992496[alleleid]",
        "alleleId": 992496,
        "preferredName": "NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1000599",
        "RCV": [
          "RCV001296754",
          "RCV003898288"
        ],
        "variationId": 1000599
      }
    ]
  },
  "type": "amino-acid"
}