{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828871278",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13,
          "referenceAllele": "R",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NP_001366578.1:p.Arg13Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351315932",
          "hgvs": "NM_001379649.1:c.37C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738683"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414882[alleleid]",
        "alleleId": 414882,
        "preferredName": "NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426934",
        "RCV": [
          "RCV000489169",
          "RCV001057550",
          "RCV001250737",
          "RCV001568399",
          "RCV003224875"
        ],
        "variationId": 426934
      }
    ]
  },
  "type": "amino-acid"
}