{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412942328",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1122337",
        "active": true,
        "id": "COSM1122337"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4874417",
        "active": true,
        "id": "COSM4874417"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=964616[alleleid]",
        "alleleId": 964616,
        "preferredName": "NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/976312",
        "RCV": [
          "RCV001253570"
        ],
        "variationId": 976312
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48932903G>A?assembly=hg19",
        "id": "chrX:g.48932903G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49075244G>A?assembly=hg38",
        "id": "chrX:g.49075244G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2065029414",
        "rs": 2065029414
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49075244,
          "referenceAllele": "G",
          "start": 49075243
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49075244G>A",
        "CM000685.2:g.49075244G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48932903,
          "referenceAllele": "G",
          "start": 48932902
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48932903G>A",
        "CM000685.1:g.48932903G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48819847,
          "referenceAllele": "G",
          "start": 48819846
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48819847G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30157,
          "referenceAllele": "C",
          "start": 30156
        }
      ],
      "hgvs": [
        "NG_033004.1:g.30157C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30927,
          "referenceAllele": "C",
          "start": 30926
        }
      ],
      "hgvs": [
        "NG_033004.2:g.30927C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "referenceAllele": "C",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Gln289Ter",
        "hgvsWellDefined": "ENSP00000365551.3:p.Gln289_Phe360delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.865C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.865C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Gln289Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Gln289Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.898C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:p.Gln300Ter",
        "hgvsWellDefined": "ENSP00000365543.5:p.Gln300_Phe371delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:p.Gln290Ter",
        "hgvsWellDefined": "ENSP00000348848.3:p.Gln290_Phe361delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000367375.8:c.644C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "endIntronDirection": "+",
          "endIntronOffset": 120,
          "referenceAllele": "C",
          "start": 675,
          "startIntronDirection": "+",
          "startIntronOffset": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.521+120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:n.521+120C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:p.Gln290Ter",
        "hgvsWellDefined": "ENSP00000365546.2:p.Gln290_Phe361delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Gln289Ter",
        "hgvsWellDefined": "ENSP00000365551.3:p.Gln289_Phe360delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:p.Gln250Ter",
        "hgvsWellDefined": "ENSP00000379913.5:p.Gln250_Phe321delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000433252.7:n.521C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2022,
          "referenceAllele": "C",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.2022C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "endIntronDirection": "+",
          "endIntronOffset": 301,
          "referenceAllele": "C",
          "start": 864,
          "startIntronDirection": "+",
          "startIntronOffset": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.725+301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:n.725+301C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 120,
          "referenceAllele": "C",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475977.2:c.323+120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417754.2:n.323+120C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:p.Gln254Ter",
        "hgvsWellDefined": "ENSP00000419897.1:p.Gln254_Phe325delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000486337.6:c.53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:p.Gln218Ter",
        "hgvsWellDefined": "ENSP00000488986.1:p.Gln218_Phe289delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634736.1:c.559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489561.1:p.Gln187Ter",
        "hgvsWellDefined": "ENSP00000489561.1:p.Gln187Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "C",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.823C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:p.Gln275Ter",
        "hgvsWellDefined": "ENSP00000489268.1:p.Gln275_Phe346delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634852.1:n.562C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:p.Gln289Ter",
        "hgvsWellDefined": "ENSP00000488972.1:p.Gln289_Phe360delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:p.Gln222Ter",
        "hgvsWellDefined": "ENSP00000489080.1:p.Gln222_Phe293delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:p.Gln269Ter",
        "hgvsWellDefined": "ENSP00000489128.1:p.Gln269_Leu277del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825345005",
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "C",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Gln289Ter",
        "hgvsWellDefined": "NP_001025067.1:p.Gln289_Phe360delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720732",
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Gln290Ter",
        "hgvsWellDefined": "NP_009006.2:p.Gln290_Phe361delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825345005",
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "referenceAllele": "C",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Gln289Ter",
        "hgvsWellDefined": "NP_001025067.1:p.Gln289_Phe360delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.865C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.865C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Gln289Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Gln289Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720732",
      "coordinates": [
        {
          "allele": "T",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Gln290Ter",
        "hgvsWellDefined": "NP_009006.2:p.Gln290_Phe361delinsTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}