{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829999075",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 247,
          "referenceAllele": "G",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011117",
      "geneNCBI_id": 6606,
      "geneSymbol": "SMN1",
      "hgvs": [
        "NP_075012.1:p.Gly247Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA360098107",
          "hgvs": "NM_022874.2:c.740G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178021"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=916956[alleleid]",
        "alleleId": 916956,
        "preferredName": "NM_000344.4(SMN1):c.836G>A (p.Gly279Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/928622",
        "RCV": [
          "RCV001192808"
        ],
        "variationId": 928622
      }
    ]
  },
  "type": "amino-acid"
}