{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825072090",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 994,
          "referenceAllele": "T",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_000100.3:p.Thr994Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412667074",
          "hgvs": "NM_000109.4:c.2981C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412667076",
          "hgvs": "NM_000109.4:c.2980A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709514"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=508080[alleleid]",
        "alleleId": 508080,
        "preferredName": "NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/511426",
        "RCV": [
          "RCV000614194",
          "RCV001050261",
          "RCV001256878",
          "RCV002438577"
        ],
        "variationId": 511426
      }
    ]
  },
  "type": "amino-acid"
}