{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645412408",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 11,
          "referenceAllele": "Q",
          "start": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010806",
      "geneNCBI_id": 6443,
      "geneSymbol": "SGCB",
      "hgvs": [
        "NP_000223.1:p.Gln11Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2918525",
          "hgvs": "NM_000232.5:c.31C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146780"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266485[alleleid]",
        "alleleId": 266485,
        "preferredName": "NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282248",
        "RCV": [
          "RCV000261367",
          "RCV000399677",
          "RCV000543057",
          "RCV002229741"
        ],
        "variationId": 282248
      }
    ]
  },
  "type": "amino-acid"
}