{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645400283",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 49,
          "referenceAllele": "S",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016636",
      "geneNCBI_id": 23095,
      "geneSymbol": "KIF1B",
      "hgvs": [
        "NP_055889.2:p.Ser49Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA580622",
          "hgvs": "NM_015074.3:c.146C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174255"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275671[alleleid]",
        "alleleId": 275671,
        "preferredName": "NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291465",
        "RCV": [
          "RCV000347279",
          "RCV000383160",
          "RCV001173603",
          "RCV004021327",
          "RCV003480578"
        ],
        "variationId": 291465
      }
    ]
  },
  "type": "amino-acid"
}