{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828722608",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "D",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "NP_001364448.1:p.Asp593Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145288",
          "hgvs": "NM_001377519.1:c.1778A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94254[alleleid]",
        "alleleId": 94254,
        "preferredName": "NM_020806.5(GPHN):c.1838A>C (p.Asp613Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88674",
        "RCV": [
          "RCV000074361"
        ],
        "variationId": 88674
      }
    ]
  },
  "type": "amino-acid"
}