{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139720672",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 222,
          "referenceAllele": "L",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NP_057253.2:p.Leu222Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5667737",
          "hgvs": "NM_016169.4:c.664C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175025"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=836577[alleleid]",
        "alleleId": 836577,
        "preferredName": "NM_016169.4(SUFU):c.664C>G (p.Leu222Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/860533",
        "RCV": [
          "RCV002365764",
          "RCV001066850",
          "RCV002497467"
        ],
        "variationId": 860533
      }
    ]
  },
  "type": "amino-acid"
}