{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829064367",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1053,
          "referenceAllele": "R",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026504",
      "geneNCBI_id": 123624,
      "geneSymbol": "AGBL1",
      "hgvs": [
        "NP_001373023.1:p.Arg1053Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145337",
          "hgvs": "NM_001386094.1:c.3157C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738913"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94338[alleleid]",
        "alleleId": 94338,
        "preferredName": "NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88757",
        "RCV": [
          "RCV000074408"
        ],
        "variationId": 88757
      }
    ]
  },
  "type": "amino-acid"
}