{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10408541",
  "communityStandardTitle": [
    "NM_001029896.2(WDR45):c.389A>C (p.Asp130Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=650100[alleleid]",
        "alleleId": 650100,
        "preferredName": "NM_001029896.2(WDR45):c.389A>C (p.Asp130Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/663904",
        "RCV": [
          "RCV000821877",
          "RCV002372348"
        ],
        "variationId": 663904
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-48934136-T-G",
        "id": "X-48934136-T-G",
        "variant": "X:48934136 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48934136T>G?assembly=hg19",
        "id": "chrX:g.48934136T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49076477T>G?assembly=hg38",
        "id": "chrX:g.49076477T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782723092",
        "rs": 782723092
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48934136-T-G?dataset=gnomad_r2_1",
        "id": "X-48934136-T-G",
        "variant": "X:48934136 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49076477-T-G?dataset=gnomad_r4",
        "id": "X-49076477-T-G",
        "variant": "X:49076477 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 49076477,
          "referenceAllele": "T",
          "start": 49076476
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49076477T>G",
        "CM000685.2:g.49076477T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48934136,
          "referenceAllele": "T",
          "start": 48934135
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48934136T>G",
        "CM000685.1:g.48934136T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48821080,
          "referenceAllele": "T",
          "start": 48821079
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48821080T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28924,
          "referenceAllele": "A",
          "start": 28923
        }
      ],
      "hgvs": [
        "NG_033004.1:g.28924A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29694,
          "referenceAllele": "A",
          "start": 29693
        }
      ],
      "hgvs": [
        "NG_033004.2:g.29694A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706153"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.9:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000365551.3:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.389A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.389A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Asp130Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Asp130Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "referenceAllele": "A",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000322995.13:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365543.5:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000365543.5:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "A",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000356463.7:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348848.3:p.Asp131Ala",
        "hgvsWellDefined": "ENSP00000348848.3:p.Asp131Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000367375.8:c.258A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 531,
          "referenceAllele": "A",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376358.4:c.131-532A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365536.3:n.131-532A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "referenceAllele": "A",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376368.7:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365546.2:p.Asp131Ala",
        "hgvsWellDefined": "ENSP00000365546.2:p.Asp131Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "referenceAllele": "A",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000376372.8:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365551.3:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000365551.3:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "A",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000396681.9:c.284A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379913.5:p.Asp95Ala",
        "hgvsWellDefined": "ENSP00000379913.5:p.Asp95Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000419567.7:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393640.3:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000393640.3:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000423215.3:c.443A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397657.3:p.Asp148Ala",
        "hgvsWellDefined": "ENSP00000397657.3:p.Asp148Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "A",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465382.6:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420534.1:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000420534.1:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1546,
          "referenceAllele": "A",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000465806.6:n.1546A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "A",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000471338.6:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418466.2:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000418466.2:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 294,
          "referenceAllele": "A",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000472654.1:n.294A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 528,
          "referenceAllele": "A",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000473974.5:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417211.1:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000417211.1:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "A",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000474053.6:c.464A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420728.1:p.Asp155Ala",
        "hgvsWellDefined": "ENSP00000420728.1:p.Asp155Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "referenceAllele": "A",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000475880.6:c.287A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418919.2:p.Asp96Ala",
        "hgvsWellDefined": "ENSP00000418919.2:p.Asp96Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000476728.5:c.284A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419324.1:p.Asp95Ala",
        "hgvsWellDefined": "ENSP00000419324.1:p.Asp95Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000485908.6:c.284A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419897.1:p.Asp95Ala",
        "hgvsWellDefined": "ENSP00000419897.1:p.Asp95Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS324831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "A",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634465.1:n.667A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634522.1:c.*40A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489330.1:n.*40A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 531,
          "referenceAllele": "A",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634559.1:c.236-532A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488986.1:n.236-532A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 297,
          "endIntronDirection": "-",
          "endIntronOffset": 531,
          "referenceAllele": "A",
          "start": 297,
          "startIntronDirection": "-",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634736.1:c.131-532A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489561.1:n.131-532A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "referenceAllele": "A",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634838.1:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489268.1:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000489268.1:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634849.1:c.458A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489150.1:p.Asp153Ala",
        "hgvsWellDefined": "ENSP00000489150.1:p.Asp153Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 99,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634852.1:n.100-14A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:p.Asp130Ala",
        "hgvsWellDefined": "ENSP00000488972.1:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 531,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.236-532A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:n.236-532A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.*40A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:n.*40A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "referenceAllele": "A",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.317A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:p.Asp106Ala",
        "hgvsWellDefined": "ENSP00000489128.1:p.Asp106Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344911",
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Asp130Ala",
        "hgvsWellDefined": "NP_001025067.1:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989042",
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "A",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Asp131Ala",
        "hgvsWellDefined": "NP_009006.2:p.Asp131Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344911",
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Asp130Ala",
        "hgvsWellDefined": "NP_001025067.1:p.Asp130Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.389A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.389A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Asp130Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Asp130Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989042",
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.392A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Asp131Ala",
        "hgvsWellDefined": "NP_009006.2:p.Asp131Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}