{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645376894",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 335,
          "referenceAllele": "P",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NP_852122.1:p.Pro335Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2135519",
          "hgvs": "NM_181457.4:c.1003C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184225"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=228929[alleleid]",
        "alleleId": 228929,
        "preferredName": "NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226993",
        "RCV": [
          "RCV000222451",
          "RCV000329028",
          "RCV000383564",
          "RCV000915585",
          "RCV003389463"
        ],
        "variationId": 226993
      }
    ]
  },
  "type": "amino-acid"
}