{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580107869",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 400,
          "referenceAllele": "Q",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NP_000254.2:p.Gln400Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA399601403",
          "hgvs": "NM_000263.4:c.1199A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2063959[alleleid]",
        "alleleId": 2063959,
        "preferredName": "NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2012453",
        "RCV": [
          "RCV002843129"
        ],
        "variationId": 2012453
      }
    ]
  },
  "type": "amino-acid"
}