{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830389799",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 315,
          "referenceAllele": "T",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NP_852125.1:p.Thr315Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339658",
          "hgvs": "NM_181460.4:c.944C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184228"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=215772[alleleid]",
        "alleleId": 215772,
        "preferredName": "NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218940",
        "RCV": [
          "RCV000203286",
          "RCV000213796",
          "RCV000293967",
          "RCV000348942",
          "RCV000626405",
          "RCV000992502"
        ],
        "variationId": 218940
      }
    ]
  },
  "type": "amino-acid"
}