{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412949114",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=850121[alleleid]",
        "alleleId": 850121,
        "preferredName": "NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/840306",
        "RCV": [
          "RCV001042261"
        ],
        "variationId": 840306
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48935337C>T?assembly=hg19",
        "id": "chrX:g.48935337C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49077678C>T?assembly=hg38",
        "id": "chrX:g.49077678C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2065045650",
        "rs": 2065045650
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49077678-C-T?dataset=gnomad_r4",
        "id": "X-49077678-C-T",
        "variant": "X:49077678 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 49077678,
          "referenceAllele": "C",
          "start": 49077677
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49077678C>T",
        "CM000685.2:g.49077678C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48935337,
          "referenceAllele": "C",
          "start": 48935336
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48935337C>T",
        "CM000685.1:g.48935337C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48822281,
          "referenceAllele": "C",
          "start": 48822280
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48822281C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27723,
          "referenceAllele": "G",
          "start": 27722
        }
      ],
      "hgvs": [
        "NG_033004.1:g.27723G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28493,
          "referenceAllele": "G",
          "start": 28492
        }
      ],
      "hgvs": [
        "NG_033004.2:g.28493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000365551.3:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.200G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.200G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Gly67Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Gly67Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000365543.5:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000348848.3:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "referenceAllele": "G",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000367375.8:c.69G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376357.1:n.376G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 159,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.130+159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:n.130+159G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000365546.2:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000365551.3:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "+",
          "endIntronOffset": 159,
          "referenceAllele": "G",
          "start": 299,
          "startIntronDirection": "+",
          "startIntronOffset": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.130+159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:n.130+159G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000419567.7:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393640.3:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000393640.3:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 432,
          "referenceAllele": "G",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000423215.3:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397657.3:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000397657.3:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465382.6:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420534.1:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000420534.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 253,
          "endIntronDirection": "-",
          "endIntronOffset": 93,
          "referenceAllele": "G",
          "start": 253,
          "startIntronDirection": "-",
          "startIntronOffset": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465431.6:n.254-94G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.465G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000471338.6:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418466.2:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000418466.2:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000417211.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "referenceAllele": "G",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000474053.6:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420728.1:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000420728.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 159,
          "referenceAllele": "G",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475880.6:c.130+159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418919.2:n.130+159G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 159,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000476728.5:c.130+159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419324.1:n.130+159G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 159,
          "referenceAllele": "G",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.130+159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:n.130+159G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000496803.6:n.382G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634390.1:n.372G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634522.1:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489330.1:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000489330.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000488986.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634671.1:c.152G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489040.1:p.Gly51Asp",
        "hgvsWellDefined": "ENSP00000489040.1:p.Gly51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634711.1:n.471G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 159,
          "referenceAllele": "G",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634736.1:c.130+159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489561.1:n.130+159G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000489268.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634849.1:c.266G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489150.1:p.Gly89Asp",
        "hgvsWellDefined": "ENSP00000489150.1:p.Gly89Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000488972.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:p.Gly67Asp",
        "hgvsWellDefined": "ENSP00000489080.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 159,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.130+159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:n.130+159G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:p.Gly43Asp",
        "hgvsWellDefined": "ENSP00000489128.1:p.Gly43Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344859",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Gly67Asp",
        "hgvsWellDefined": "NP_001025067.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720567",
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Gly67Asp",
        "hgvsWellDefined": "NP_009006.2:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344859",
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Gly67Asp",
        "hgvsWellDefined": "NP_001025067.1:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.200G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.200G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Gly67Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Gly67Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720567",
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Gly67Asp",
        "hgvsWellDefined": "NP_009006.2:p.Gly67Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}