{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825445172",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 418,
          "referenceAllele": "D",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NP_001073279.2:p.Asp418Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2299424",
          "hgvs": "NM_001079811.3:c.1253A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=294405[alleleid]",
        "alleleId": 294405,
        "preferredName": "NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/344790",
        "RCV": [
          "RCV000292413",
          "RCV000675170",
          "RCV001382666",
          "RCV001584055",
          "RCV001775114"
        ],
        "variationId": 344790
      }
    ]
  },
  "type": "amino-acid"
}