{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825622518",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1136,
          "referenceAllele": "E",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NP_001119603.1:p.Glu1136Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7724148",
          "hgvs": "NM_001126131.2:c.3408G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393749788",
          "hgvs": "NM_001126131.2:c.3408G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151977"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=937099[alleleid]",
        "alleleId": 937099,
        "preferredName": "NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/937766",
        "RCV": [
          "RCV001206861",
          "RCV001586050",
          "RCV002561238",
          "RCV004526814"
        ],
        "variationId": 937766
      }
    ]
  },
  "type": "amino-acid"
}