{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057575779",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 408,
          "referenceAllele": "AFSPQVLAA",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NP_000333.1:p.Ala400_Ala408del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA213002",
          "hgvs": "NM_000342.4:c.1199_1225del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146887"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32792[alleleid]",
        "alleleId": 32792,
        "preferredName": "NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17753",
        "RCV": [
          "RCV000019329",
          "RCV000019330",
          "RCV001377074",
          "RCV001807735",
          "RCV001536118",
          "RCV001849272"
        ],
        "variationId": 17753
      }
    ]
  },
  "type": "amino-acid"
}