{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580206617",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 392,
          "referenceAllele": "K",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002906",
      "geneNCBI_id": 9228,
      "geneSymbol": "DLGAP2",
      "hgvs": [
        "NP_001333739.1:p.Lys392Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA369948332",
          "hgvs": "NM_001346810.2:c.1176G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA369948333",
          "hgvs": "NM_001346810.2:c.1176G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625024"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2209542[alleleid]",
        "alleleId": 2209542,
        "preferredName": "NM_001346810.2(DLGAP2):c.1176G>C (p.Lys392Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2229999",
        "RCV": [
          "RCV004093658"
        ],
        "variationId": 2229999
      }
    ]
  },
  "type": "amino-acid"
}