{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826194842",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 627,
          "referenceAllele": "Q",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006912",
      "geneNCBI_id": 9782,
      "geneSymbol": "MATR3",
      "hgvs": [
        "NP_001181884.1:p.Gln627Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3433262",
          "hgvs": "NM_001194955.2:c.1879C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156946"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=297391[alleleid]",
        "alleleId": 297391,
        "preferredName": "NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351130",
        "RCV": [
          "RCV000260341",
          "RCV004021984"
        ],
        "variationId": 351130
      }
    ]
  },
  "type": "amino-acid"
}