{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829466749",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 735,
          "referenceAllele": "H",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.His735Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706110",
          "hgvs": "NM_003494.4:c.2203C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274494[alleleid]",
        "alleleId": 274494,
        "preferredName": "NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290257",
        "RCV": [
          "RCV000300931",
          "RCV000405461",
          "RCV000726455",
          "RCV001082501",
          "RCV001271788",
          "RCV003910038"
        ],
        "variationId": 290257
      }
    ]
  },
  "type": "amino-acid"
}