{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499284533",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 74,
          "referenceAllele": "V",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "NP_060631.2:p.Val74Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6162860",
          "hgvs": "NM_018161.5:c.220G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381699824",
          "hgvs": "NM_018161.5:c.220G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176033"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1239859[alleleid]",
        "alleleId": 1239859,
        "preferredName": "NM_018161.5(NADSYN1):c.220G>C (p.Val74Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1248202",
        "RCV": [
          "RCV001652036",
          "RCV001779284"
        ],
        "variationId": 1248202
      }
    ]
  },
  "type": "amino-acid"
}