{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA341820",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 232,
          "referenceAllele": "K",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "NP_001123237.1:p.Lys232del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341819",
          "hgvs": "NM_001129765.2:c.696_698del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152337"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34120[alleleid]",
        "alleleId": 34120,
        "preferredName": "NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21268",
        "RCV": [
          "RCV000020430"
        ],
        "variationId": 21268
      }
    ]
  },
  "type": "amino-acid"
}