{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826141306",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 349,
          "referenceAllele": "S",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NP_001171604.1:p.Ser349Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162216",
          "hgvs": "NM_001178133.2:c.1045A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156354"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139022[alleleid]",
        "alleleId": 139022,
        "preferredName": "NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135283",
        "RCV": [
          "RCV000122098",
          "RCV000471241",
          "RCV000562404",
          "RCV000763642",
          "RCV000726658",
          "RCV003460861"
        ],
        "variationId": 135283
      }
    ]
  },
  "type": "amino-acid"
}