{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826666093",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1044,
          "referenceAllele": "N",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_001269607.1:p.Asn1044Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4340751",
          "hgvs": "NM_001282678.2:c.3132T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368159165",
          "hgvs": "NM_001282678.2:c.3132T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=538396[alleleid]",
        "alleleId": 538396,
        "preferredName": "NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/548004",
        "RCV": [
          "RCV000660614",
          "RCV001451234"
        ],
        "variationId": 548004
      }
    ]
  },
  "type": "amino-acid"
}