{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828057956",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 188,
          "referenceAllele": "S",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001346945.1:p.Ser188Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120955",
          "hgvs": "NM_001360016.2:c.563C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573398",
          "hgvs": "NM_001360016.2:c.[563C>T;376A>G;202G>A]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573399",
          "hgvs": "NM_001360016.2:c.[563C>T;376A>G]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573400",
          "hgvs": "NM_001360016.2:c.[563C>T;202G>A]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573401",
          "hgvs": "NM_001360016.2:c.[563C>T;143T>C]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25407[alleleid]",
        "alleleId": 25407,
        "preferredName": "NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100057",
        "RCV": [
          "RCV000011087",
          "RCV000079409",
          "RCV000011086",
          "RCV000011088",
          "RCV000179363",
          "RCV000445579",
          "RCV000477810",
          "RCV001250219",
          "RCV000623137",
          "RCV000761429",
          "RCV001265539",
          "RCV002227060",
          "RCV003925095",
          "RCV001528124"
        ],
        "variationId": 100057
      }
    ]
  },
  "type": "amino-acid"
}