{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580268598",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 441,
          "referenceAllele": "D",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004422",
      "geneNCBI_id": 2799,
      "geneSymbol": "GNS",
      "hgvs": [
        "NP_002067.1:p.Asp441Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA385602328",
          "hgvs": "NM_002076.4:c.1323C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA385602331",
          "hgvs": "NM_002076.4:c.1323C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167952"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2028271[alleleid]",
        "alleleId": 2028271,
        "preferredName": "NM_002076.4(GNS):c.1323C>G (p.Asp441Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1966974",
        "RCV": [
          "RCV002721698"
        ],
        "variationId": 1966974
      }
    ]
  },
  "type": "amino-acid"
}