{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828848057",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "referenceAllele": "R",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NP_001366561.1:p.Arg1530Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2207376",
          "hgvs": "NM_001379632.1:c.4588C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450704[alleleid]",
        "alleleId": 450704,
        "preferredName": "NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/464253",
        "RCV": [
          "RCV000554693",
          "RCV001136789",
          "RCV001697024",
          "RCV004541685",
          "RCV001848938"
        ],
        "variationId": 464253
      }
    ]
  },
  "type": "amino-acid"
}