{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916052067",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 543,
          "referenceAllele": "D",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NP_065970.2:p.Asp543Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2058415",
          "hgvs": "NM_020919.3:c.1627G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177218"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=683470[alleleid]",
        "alleleId": 683470,
        "preferredName": "NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/695972",
        "RCV": [
          "RCV000862041",
          "RCV001143736",
          "RCV001143735",
          "RCV001672966",
          "RCV001849153"
        ],
        "variationId": 695972
      }
    ]
  },
  "type": "amino-acid"
}