{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741922920",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 47,
          "referenceAllele": "E",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010887",
      "geneNCBI_id": 6495,
      "geneSymbol": "SIX1",
      "hgvs": [
        "NP_005973.1:p.Glu47Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA389910959",
          "hgvs": "NM_005982.4:c.139G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171564"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3096053[alleleid]",
        "alleleId": 3096053,
        "preferredName": "NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2937573",
        "RCV": [
          "RCV003794203"
        ],
        "variationId": 2937573
      }
    ]
  },
  "type": "amino-acid"
}