{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828235566",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 714,
          "referenceAllele": "D",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013281",
      "geneNCBI_id": 83715,
      "geneSymbol": "ESPN",
      "hgvs": [
        "NP_001354402.1:p.Asp714Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116850",
          "hgvs": "NM_001367473.1:c.2140G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674253"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19460[alleleid]",
        "alleleId": 19460,
        "preferredName": "NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4421",
        "RCV": [
          "RCV000004671",
          "RCV000757225",
          "RCV002490311"
        ],
        "variationId": 4421
      }
    ]
  },
  "type": "amino-acid"
}