{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829489386",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 442,
          "referenceAllele": "H",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004000.1:p.His442Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285523",
          "hgvs": "NM_004009.3:c.1325A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100361[alleleid]",
        "alleleId": 100361,
        "preferredName": "NM_004006.3(DMD):c.1337A>G (p.His446Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94461",
        "RCV": [
          "RCV000157166",
          "RCV000157165",
          "RCV000243647",
          "RCV000869409",
          "RCV001168118",
          "RCV001719836",
          "RCV001835674",
          "RCV004542772"
        ],
        "variationId": 94461
      }
    ]
  },
  "type": "amino-acid"
}