{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA254383",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 133,
          "referenceAllele": "E",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "NP_005973.1:p.Glu133del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254382",
          "hgvs": "NM_005982.4:c.397_399del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171564"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23349[alleleid]",
        "alleleId": 23349,
        "preferredName": "NM_005982.4(SIX1):c.397_399del (p.Glu133del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8310",
        "RCV": [
          "RCV000008808",
          "RCV000020636",
          "RCV003162220",
          "RCV002512920"
        ],
        "variationId": 8310
      }
    ]
  },
  "type": "amino-acid"
}