{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827051696",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000969",
      "geneNCBI_id": 585,
      "geneSymbol": "BBS4",
      "hgvs": [
        "NP_001307594.1:p.Ala341Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254672",
          "hgvs": "NM_001320665.2:c.1022C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640129"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24187[alleleid]",
        "alleleId": 24187,
        "preferredName": "NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9148",
        "RCV": [
          "RCV000009719",
          "RCV003228893"
        ],
        "variationId": 9148
      }
    ]
  },
  "type": "amino-acid"
}