{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829828567",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 106,
          "referenceAllele": "K",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009153",
      "geneNCBI_id": 25953,
      "geneSymbol": "PNKD",
      "hgvs": [
        "NP_056303.3:p.Lys106Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350538230",
          "hgvs": "NM_015488.5:c.318A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA350538231",
          "hgvs": "NM_015488.5:c.318A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174594"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691291[alleleid]",
        "alleleId": 1691291,
        "preferredName": "NM_015488.5(PNKD):c.318A>T (p.Lys106Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1698915",
        "RCV": [
          "RCV002272772"
        ],
        "variationId": 1698915
      }
    ]
  },
  "type": "amino-acid"
}