{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828876791",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179,
          "referenceAllele": "E",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NP_001366582.1:p.Glu179Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10584199",
          "hgvs": "NM_001379653.1:c.536A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244363[alleleid]",
        "alleleId": 244363,
        "preferredName": "NM_001244008.2(KIF1A):c.536A>G (p.Glu179Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/245789",
        "RCV": [
          "RCV000237085",
          "RCV003765471"
        ],
        "variationId": 245789
      }
    ]
  },
  "type": "amino-acid"
}