{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10408570",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.325C>T (p.Arg109Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1122343",
        "active": true,
        "id": "COSM1122343"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4872456",
        "active": true,
        "id": "COSM4872456"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1129810[alleleid]",
        "alleleId": 1129810,
        "preferredName": "NM_001029896.2(WDR45):c.325C>T (p.Arg109Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1134059",
        "RCV": [
          "RCV001468848",
          "RCV001544831"
        ],
        "variationId": 1134059
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-48934320-G-A",
        "id": "X-48934320-G-A",
        "variant": "X:48934320 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48934320G>A?assembly=hg19",
        "id": "chrX:g.48934320G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49076661G>A?assembly=hg38",
        "id": "chrX:g.49076661G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369310756",
        "rs": 369310756
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48934320-G-A?dataset=gnomad_r2_1",
        "id": "X-48934320-G-A",
        "variant": "X:48934320 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49076661-G-A?dataset=gnomad_r3",
        "id": "X-49076661-G-A",
        "variant": "X:49076661 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49076661-G-A?dataset=gnomad_r4",
        "id": "X-49076661-G-A",
        "variant": "X:49076661 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49076661,
          "referenceAllele": "G",
          "start": 49076660
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49076661G>A",
        "CM000685.2:g.49076661G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48934320,
          "referenceAllele": "G",
          "start": 48934319
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48934320G>A",
        "CM000685.1:g.48934320G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48821264,
          "referenceAllele": "G",
          "start": 48821263
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48821264G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28740,
          "referenceAllele": "C",
          "start": 28739
        }
      ],
      "hgvs": [
        "NG_033004.1:g.28740C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29510,
          "referenceAllele": "C",
          "start": 29509
        }
      ],
      "hgvs": [
        "NG_033004.2:g.29510C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000365551.3:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.325C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.325C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Arg109Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Arg109Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000365543.5:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:p.Arg110Cys",
        "hgvsWellDefined": "ENSP00000348848.3:p.Arg110Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000367375.8:c.194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 715,
          "referenceAllele": "C",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.131-716C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:n.131-716C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:p.Arg110Cys",
        "hgvsWellDefined": "ENSP00000365546.2:p.Arg110Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000365551.3:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:p.Arg74Cys",
        "hgvsWellDefined": "ENSP00000379913.5:p.Arg74Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000419567.7:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393640.3:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000393640.3:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000423215.3:c.379C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397657.3:p.Arg127Cys",
        "hgvsWellDefined": "ENSP00000397657.3:p.Arg127Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465382.6:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420534.1:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000420534.1:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.1482C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000471338.6:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418466.2:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000418466.2:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000472654.1:n.230C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000417211.1:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000474053.6:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420728.1:p.Arg134Cys",
        "hgvsWellDefined": "ENSP00000420728.1:p.Arg134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475880.6:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418919.2:p.Arg75Cys",
        "hgvsWellDefined": "ENSP00000418919.2:p.Arg75Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000476728.5:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419324.1:p.Arg74Cys",
        "hgvsWellDefined": "ENSP00000419324.1:p.Arg74Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:p.Arg74Cys",
        "hgvsWellDefined": "ENSP00000419897.1:p.Arg74Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634465.1:n.603C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 136,
          "referenceAllele": "C",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634522.1:c.236-137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489330.1:n.236-137C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 715,
          "referenceAllele": "C",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.236-716C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:n.236-716C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "endIntronDirection": "-",
          "endIntronOffset": 715,
          "referenceAllele": "C",
          "start": 297,
          "startIntronDirection": "-",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634736.1:c.131-716C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489561.1:n.131-716C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "C",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000489268.1:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634849.1:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489150.1:p.Arg132Cys",
        "hgvsWellDefined": "ENSP00000489150.1:p.Arg132Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99,
          "endIntronDirection": "-",
          "endIntronOffset": 197,
          "referenceAllele": "C",
          "start": 99,
          "startIntronDirection": "-",
          "startIntronOffset": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634852.1:n.100-198C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:p.Arg109Cys",
        "hgvsWellDefined": "ENSP00000488972.1:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 715,
          "referenceAllele": "C",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.236-716C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:n.236-716C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "referenceAllele": "C",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635329.1:n.134C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 136,
          "referenceAllele": "C",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.131-137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:n.131-137C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:p.Arg85Cys",
        "hgvsWellDefined": "ENSP00000489128.1:p.Arg85Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344892",
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "referenceAllele": "C",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Arg109Cys",
        "hgvsWellDefined": "NP_001025067.1:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499275612",
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Arg110Cys",
        "hgvsWellDefined": "NP_009006.2:p.Arg110Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344892",
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Arg109Cys",
        "hgvsWellDefined": "NP_001025067.1:p.Arg109Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.325C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.325C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Arg109Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Arg109Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499275612",
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Arg110Cys",
        "hgvsWellDefined": "NP_009006.2:p.Arg110Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}