{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829466166",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 340,
          "referenceAllele": "S",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Ser340Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10605994",
          "hgvs": "NM_003494.4:c.1020C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347212164",
          "hgvs": "NM_003494.4:c.1018A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347212168",
          "hgvs": "NM_003494.4:c.1020C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272420[alleleid]",
        "alleleId": 272420,
        "preferredName": "NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=542153[alleleid]",
        "alleleId": 542153,
        "preferredName": "NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288183",
        "RCV": [
          "RCV000336319",
          "RCV001067684",
          "RCV001823131"
        ],
        "variationId": 288183
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551891",
        "RCV": [
          "RCV000667055",
          "RCV001058931",
          "RCV001784244",
          "RCV003465460"
        ],
        "variationId": 551891
      }
    ]
  },
  "type": "amino-acid"
}