{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA252426",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 2168,
          "referenceAllele": "L",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NP_689777.3:p.Leu2168Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252423",
          "hgvs": "NM_152564.5:c.6503T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182495"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17858[alleleid]",
        "alleleId": 17858,
        "preferredName": "NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2819",
        "RCV": [
          "RCV000002953"
        ],
        "variationId": 2819
      }
    ]
  },
  "type": "amino-acid"
}