{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645472409",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 986,
          "referenceAllele": "P",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006323",
      "geneNCBI_id": 3798,
      "geneSymbol": "KIF5A",
      "hgvs": [
        "NP_004975.2:p.Pro986Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6653261",
          "hgvs": "NM_004984.4:c.2957C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170653"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=241567[alleleid]",
        "alleleId": 241567,
        "preferredName": "NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/240087",
        "RCV": [
          "RCV000424199",
          "RCV000713410",
          "RCV001081669",
          "RCV000625002",
          "RCV001260204",
          "RCV001847959"
        ],
        "variationId": 240087
      }
    ]
  },
  "type": "amino-acid"
}