{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100420",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 596,
          "referenceAllele": "N",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006893",
      "geneNCBI_id": 4137,
      "geneSymbol": "MAPT",
      "hgvs": [
        "NP_058519.3:p.Asn596Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA225424",
          "hgvs": "NM_016835.5:c.1788T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399983169",
          "hgvs": "NM_016835.5:c.1788T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175418"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29292[alleleid]",
        "alleleId": 29292,
        "preferredName": "NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14253",
        "RCV": [
          "RCV000015322",
          "RCV000084521",
          "RCV000763404"
        ],
        "variationId": 14253
      }
    ]
  },
  "type": "amino-acid"
}