{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825801593",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 368,
          "referenceAllele": "V",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NP_001129217.1:p.Val368Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2058548",
          "hgvs": "NM_001135745.2:c.1102G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152960"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=250505[alleleid]",
        "alleleId": 250505,
        "preferredName": "NM_020919.4(ALS2):c.1102G>A (p.Val368Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261364",
        "RCV": [
          "RCV000243956",
          "RCV000269440",
          "RCV000326864",
          "RCV001509593",
          "RCV000710519",
          "RCV001548881"
        ],
        "variationId": 261364
      }
    ]
  },
  "type": "amino-acid"
}