{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828866481",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 254,
          "referenceAllele": "R",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NP_001366574.1:p.Arg254Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10602852",
          "hgvs": "NM_001379645.1:c.761G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739686"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264094[alleleid]",
        "alleleId": 264094,
        "preferredName": "NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280500",
        "RCV": [
          "RCV000326247",
          "RCV000803981",
          "RCV001078149",
          "RCV001808727"
        ],
        "variationId": 280500
      }
    ]
  },
  "type": "amino-acid"
}