{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829496539",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1026,
          "referenceAllele": "K",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004001.1:p.Lys1026Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10379265",
          "hgvs": "NM_004010.3:c.3076A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269589[alleleid]",
        "alleleId": 269589,
        "preferredName": "NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285352",
        "RCV": [
          "RCV000400926",
          "RCV001088792",
          "RCV001835755",
          "RCV003298339"
        ],
        "variationId": 285352
      }
    ]
  },
  "type": "amino-acid"
}