{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645482162",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 17,
          "referenceAllele": "A",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NP_057253.2:p.Ala17Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5667584",
          "hgvs": "NM_016169.4:c.50C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175025"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397637[alleleid]",
        "alleleId": 397637,
        "preferredName": "NM_016169.4(SUFU):c.50C>T (p.Ala17Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/413907",
        "RCV": [
          "RCV000573813",
          "RCV000475558",
          "RCV001106674",
          "RCV002291643",
          "RCV002293445"
        ],
        "variationId": 413907
      }
    ]
  },
  "type": "amino-acid"
}