{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825794052",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 142,
          "referenceAllele": "W",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NP_001129074.2:p.Trp142Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114642",
          "hgvs": "NM_001135602.3:c.425G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891843340",
          "hgvs": "NM_001135602.3:c.424_425delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733773"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15970[alleleid]",
        "alleleId": 15970,
        "preferredName": "NM_000404.4(GLB1):c.818G>T (p.Trp273Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=559427[alleleid]",
        "alleleId": 559427,
        "preferredName": "NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/931",
        "RCV": [
          "RCV000000979"
        ],
        "variationId": 931
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/568792",
        "RCV": [
          "RCV000689254",
          "RCV000790561",
          "RCV001584562",
          "RCV002275106"
        ],
        "variationId": 568792
      }
    ]
  },
  "type": "amino-acid"
}