{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA200252",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 174,
          "referenceAllele": "S",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_077277.1:p.Ser174Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA200251",
          "hgvs": "NM_024301.5:c.520A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2844624991",
          "hgvs": "NM_024301.5:c.516_520delinsTGTCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178240"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102004[alleleid]",
        "alleleId": 102004,
        "preferredName": "NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3499129[alleleid]",
        "alleleId": 3499129,
        "preferredName": "NM_024301.5(FKRP):c.516_520delinsTGTCT (p.Ser174Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96110",
        "RCV": [
          "RCV000173034",
          "RCV000234733",
          "RCV000991333",
          "RCV000852755",
          "RCV001275312",
          "RCV002336238",
          "RCV002505003"
        ],
        "variationId": 96110
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3339866",
        "RCV": [
          "RCV004700101"
        ],
        "variationId": 3339866
      }
    ]
  },
  "type": "amino-acid"
}