{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827925124",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 627,
          "referenceAllele": "R",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NP_001341634.1:p.Arg627Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6653017",
          "hgvs": "NM_001354705.2:c.1879C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617940"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399033[alleleid]",
        "alleleId": 399033,
        "preferredName": "NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409667",
        "RCV": [
          "RCV000471143",
          "RCV001843522"
        ],
        "variationId": 409667
      }
    ]
  },
  "type": "amino-acid"
}