{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828195478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "R",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NP_001352882.1:p.Arg1048Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA581375",
          "hgvs": "NM_001365953.1:c.3142C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1321745[alleleid]",
        "alleleId": 1321745,
        "preferredName": "NM_001365951.3(KIF1B):c.2115+7081C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1331070",
        "RCV": [
          "RCV001812605",
          "RCV003388047",
          "RCV003968560"
        ],
        "variationId": 1331070
      }
    ]
  },
  "type": "amino-acid"
}