{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111012",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Gly621Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10606091",
          "hgvs": "NM_003494.4:c.1861G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347218631",
          "hgvs": "NM_003494.4:c.1861G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272675[alleleid]",
        "alleleId": 272675,
        "preferredName": "NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4925438[alleleid]",
        "alleleId": 4925438,
        "preferredName": "NM_001130987.2(DYSF):c.1915G>C (p.Gly639Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288438",
        "RCV": [
          "RCV000597376",
          "RCV000726165",
          "RCV001214514",
          "RCV003469244"
        ],
        "variationId": 288438
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4815130",
        "RCV": [
          "RCV006641637"
        ],
        "variationId": 4815130
      }
    ]
  },
  "type": "amino-acid"
}