{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412949279",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.130+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2405948[alleleid]",
        "alleleId": 2405948,
        "preferredName": "NM_001029896.2(WDR45):c.130+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2434636",
        "RCV": [
          "RCV003134786"
        ],
        "variationId": 2434636
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48935495C>A?assembly=hg19",
        "id": "chrX:g.48935495C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49077836C>A?assembly=hg38",
        "id": "chrX:g.49077836C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147817628",
        "rs": 2147817628
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49077836,
          "referenceAllele": "C",
          "start": 49077835
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49077836C>A",
        "CM000685.2:g.49077836C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48935495,
          "referenceAllele": "C",
          "start": 48935494
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48935495C>A",
        "CM000685.1:g.48935495C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48822439,
          "referenceAllele": "C",
          "start": 48822438
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48822439C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27565,
          "referenceAllele": "G",
          "start": 27564
        }
      ],
      "hgvs": [
        "NG_033004.1:g.27565G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28335,
          "referenceAllele": "G",
          "start": 28334
        }
      ],
      "hgvs": [
        "NG_033004.2:g.28335G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.130+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.130+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:n.130+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:n.130+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 295,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 569,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376357.1:n.306+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 326,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 299,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000419567.7:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393640.3:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 362,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000423215.3:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397657.3:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465382.6:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420534.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 253,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465431.6:n.253+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.307G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000471338.6:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418466.2:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 269,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000474053.6:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420728.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475880.6:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418919.2:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000476728.5:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419324.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000496803.6:n.312+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634390.1:n.302+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634522.1:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489330.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 289,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 49,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634671.1:c.82+49G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489040.1:n.82+49G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634711.1:n.313G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634736.1:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489561.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 278,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 626,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634849.1:c.196+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489150.1:n.196+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 264,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.58+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:n.58+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 569,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.130+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.130+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:n.130+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:n.130+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 626,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.130+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:n.130+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}