{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828844181",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 78,
          "referenceAllele": "G",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NP_001366560.1:p.Gly78Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043389",
          "hgvs": "NM_001379631.1:c.232G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738666"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360839[alleleid]",
        "alleleId": 360839,
        "preferredName": "NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373905",
        "RCV": [
          "RCV000414911",
          "RCV001251219",
          "RCV001861441"
        ],
        "variationId": 373905
      }
    ]
  },
  "type": "amino-acid"
}