{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139736116",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1328,
          "referenceAllele": "S",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NP_065970.2:p.Ser1328Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350317000",
          "hgvs": "NM_020919.3:c.3983G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177218"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=883327[alleleid]",
        "alleleId": 883327,
        "preferredName": "NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/896447",
        "RCV": [
          "RCV001139099",
          "RCV001139098",
          "RCV001856786",
          "RCV003363119"
        ],
        "variationId": 896447
      }
    ]
  },
  "type": "amino-acid"
}