{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916052233",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1472,
          "referenceAllele": "T",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NP_065970.2:p.Thr1472Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2057571",
          "hgvs": "NM_020919.3:c.4415C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177218"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=629294[alleleid]",
        "alleleId": 629294,
        "preferredName": "NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648585",
        "RCV": [
          "RCV000803341",
          "RCV001136863",
          "RCV001136862"
        ],
        "variationId": 648585
      }
    ]
  },
  "type": "amino-acid"
}