{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580390588",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 86,
          "referenceAllele": "Q",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007163",
      "geneNCBI_id": 4326,
      "geneSymbol": "MMP17",
      "hgvs": [
        "NP_057239.4:p.Gln86Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA387284684",
          "hgvs": "NM_016155.7:c.256C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175018"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2279967[alleleid]",
        "alleleId": 2279967,
        "preferredName": "NM_016155.7(MMP17):c.256C>G (p.Gln86Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2292759",
        "RCV": [
          "RCV004146338"
        ],
        "variationId": 2292759
      }
    ]
  },
  "type": "amino-acid"
}