{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828857320",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 13,
          "referenceAllele": "R",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NP_001366567.1:p.Arg13Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16617514",
          "hgvs": "NM_001379638.1:c.37C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405688[alleleid]",
        "alleleId": 405688,
        "preferredName": "NM_001244008.2(KIF1A):c.37C>A (p.Arg13Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421138",
        "RCV": [
          "RCV000481549"
        ],
        "variationId": 421138
      }
    ]
  },
  "type": "amino-acid"
}