{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093209",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 207,
          "referenceAllele": "R",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NP_001284707.1:p.Arg207Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA260590",
          "hgvs": "NM_001297778.1:c.619C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45794[alleleid]",
        "alleleId": 45794,
        "preferredName": "NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37133",
        "RCV": [
          "RCV000030764",
          "RCV001090803"
        ],
        "variationId": 37133
      }
    ]
  },
  "type": "amino-acid"
}