{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139735794",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 573,
          "referenceAllele": "A",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NP_065970.2:p.Ala573Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350325908",
          "hgvs": "NM_020919.3:c.1718C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177218"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=682213[alleleid]",
        "alleleId": 682213,
        "preferredName": "NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694319",
        "RCV": [
          "RCV001089471",
          "RCV001095477"
        ],
        "variationId": 694319
      }
    ]
  },
  "type": "amino-acid"
}