{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645473969",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 250,
          "referenceAllele": "P",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NP_000159.3:p.Pro250Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4231077",
          "hgvs": "NM_000168.6:c.748C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146718"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=303048[alleleid]",
        "alleleId": 303048,
        "preferredName": "NM_000168.6(GLI3):c.748C>T (p.Pro250Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/360251",
        "RCV": [
          "RCV000295892",
          "RCV000329883",
          "RCV000386462",
          "RCV001770283",
          "RCV003105883"
        ],
        "variationId": 360251
      }
    ]
  },
  "type": "amino-acid"
}