{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828879826",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 45,
          "referenceAllele": "G",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044204",
      "geneNCBI_id": 388588,
      "geneSymbol": "SMIM1",
      "hgvs": [
        "NP_001366619.1:p.Gly45Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338041389",
          "hgvs": "NM_001379690.1:c.134G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735578"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2258251[alleleid]",
        "alleleId": 2258251,
        "preferredName": "NM_001288583.2(SMIM1):c.134G>A (p.Gly45Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2260634",
        "RCV": [
          "RCV004121621"
        ],
        "variationId": 2260634
      }
    ]
  },
  "type": "amino-acid"
}