{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827924930",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "referenceAllele": "R",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NP_001341634.1:p.Arg333Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6652803",
          "hgvs": "NM_001354705.2:c.997C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617940"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399029[alleleid]",
        "alleleId": 399029,
        "preferredName": "NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409668",
        "RCV": [
          "RCV000458531",
          "RCV001114824",
          "RCV001289240",
          "RCV004551528"
        ],
        "variationId": 409668
      }
    ]
  },
  "type": "amino-acid"
}