{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825747335",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124448.1:p.Gly604Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA241938",
          "hgvs": "NM_001130976.2:c.1810G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA277611",
          "hgvs": "NM_001130976.2:c.1810G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152617"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192651[alleleid]",
        "alleleId": 192651,
        "preferredName": "NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213809[alleleid]",
        "alleleId": 213809,
        "preferredName": "NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195490",
        "RCV": [
          "RCV000176067",
          "RCV000675177",
          "RCV001852168",
          "RCV003235095",
          "RCV003468857"
        ],
        "variationId": 195490
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217224",
        "RCV": [
          "RCV000201138",
          "RCV000726170"
        ],
        "variationId": 217224
      }
    ]
  },
  "type": "amino-acid"
}