{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826141289",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 341,
          "referenceAllele": "P",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NP_001171604.1:p.Pro341Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162210",
          "hgvs": "NM_001178133.2:c.1022C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156354"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139020[alleleid]",
        "alleleId": 139020,
        "preferredName": "NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135281",
        "RCV": [
          "RCV000122096",
          "RCV000223867",
          "RCV000816377",
          "RCV001017035"
        ],
        "variationId": 135281
      }
    ]
  },
  "type": "amino-acid"
}