{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580326255",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGGG",
          "end": 47,
          "referenceAllele": "",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010889",
      "geneNCBI_id": 6496,
      "geneSymbol": "SIX3",
      "hgvs": [
        "NP_005404.1:p.Ala44_Gly47dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2576956287",
          "hgvs": "NM_005413.4:c.130_141dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171045"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2148559[alleleid]",
        "alleleId": 2148559,
        "preferredName": "NM_005413.4(SIX3):c.130_141dup (p.Gly47_Ser48insAlaGlyGlyGly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2090755",
        "RCV": [
          "RCV003013266"
        ],
        "variationId": 2090755
      }
    ]
  },
  "type": "amino-acid"
}