{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826363239",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 116,
          "referenceAllele": "R",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "NP_001240795.1:p.Arg116Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044002",
          "hgvs": "NM_001253866.2:c.346C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361892[alleleid]",
        "alleleId": 361892,
        "preferredName": "NM_014263.4(YME1L1):c.445C>T (p.Arg149Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374984",
        "RCV": [
          "RCV000415698"
        ],
        "variationId": 374984
      }
    ]
  },
  "type": "amino-acid"
}