{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829466435",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 504,
          "referenceAllele": "K",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Lys504Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705844",
          "hgvs": "NM_003494.4:c.1512A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347217253",
          "hgvs": "NM_003494.4:c.1512A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2008265[alleleid]",
        "alleleId": 2008265,
        "preferredName": "NM_003494.4(DYSF):c.1512A>T (p.Lys504Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1954148",
        "RCV": [
          "RCV002714966",
          "RCV003146606"
        ],
        "variationId": 1954148
      }
    ]
  },
  "type": "amino-acid"
}