{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139726997",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 985,
          "referenceAllele": "D",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "NP_055855.2:p.Asp985Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350114306",
          "hgvs": "NM_015040.4:c.2954A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174225"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=883557[alleleid]",
        "alleleId": 883557,
        "preferredName": "NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/897323",
        "RCV": [
          "RCV001140517"
        ],
        "variationId": 897323
      }
    ]
  },
  "type": "amino-acid"
}