{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580416965",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2419,
          "referenceAllele": "K",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NP_060360.3:p.Lys2419Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371874407",
          "hgvs": "NM_017890.5:c.7255A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1984798[alleleid]",
        "alleleId": 1984798,
        "preferredName": "NM_152564.5(VPS13B):c.7180A>G (p.Lys2394Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1931083",
        "RCV": [
          "RCV002645908"
        ],
        "variationId": 1931083
      }
    ]
  },
  "type": "amino-acid"
}