{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256983",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1673127",
        "active": true,
        "id": "COSM1673127"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28867[alleleid]",
        "alleleId": 28867,
        "preferredName": "NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13828",
        "RCV": [
          "RCV000014840",
          "RCV000489344",
          "RCV001047666",
          "RCV001450016"
        ],
        "variationId": 13828
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42007251G>A?assembly=hg19",
        "id": "chr7:g.42007251G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41967653G>A?assembly=hg38",
        "id": "chr7:g.41967653G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917714",
        "rs": 121917714
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42007251-G-A?dataset=gnomad_r2_1",
        "id": "7-42007251-G-A",
        "variant": "7:42007251 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41967653-G-A?dataset=gnomad_r4",
        "id": "7-41967653-G-A",
        "variant": "7:41967653 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41967653,
          "referenceAllele": "G",
          "start": 41967652
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41967653G>A",
        "CM000669.2:g.41967653G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42007251,
          "referenceAllele": "G",
          "start": 42007250
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42007251G>A",
        "CM000669.1:g.42007251G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41973776,
          "referenceAllele": "G",
          "start": 41973775
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41973776G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274368,
          "referenceAllele": "C",
          "start": 274367
        }
      ],
      "hgvs": [
        "NG_008434.1:g.274368C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg792Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2374C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2374C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg792Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg792Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.2200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Arg734Ter",
        "hgvsWellDefined": "ENSP00000503986.1:p.Arg734_Gln1522delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2473,
          "referenceAllele": "C",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Arg792Ter",
        "hgvsWellDefined": "ENSP00000503743.1:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "C",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Arg792Ter",
        "hgvsWellDefined": "ENSP00000502957.1:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "referenceAllele": "C",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg792Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2351,
          "referenceAllele": "C",
          "start": 2350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.2351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256984",
      "coordinates": [
        {
          "allele": "T",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg792Ter",
        "hgvsWellDefined": "NP_000159.3:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2503,
          "referenceAllele": "C",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Arg792Ter",
        "hgvsWellDefined": "XP_005249760.1:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2692,
          "referenceAllele": "C",
          "start": 2691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Arg792Ter",
        "hgvsWellDefined": "XP_005249761.1:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2482,
          "referenceAllele": "C",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Arg792Ter",
        "hgvsWellDefined": "XP_011513574.1:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2535,
          "referenceAllele": "C",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Arg792Ter",
        "hgvsWellDefined": "XP_011513575.1:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2351,
          "referenceAllele": "C",
          "start": 2350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.2197C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg733Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Arg733_Gln1521delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5089,
          "referenceAllele": "C",
          "start": 5088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.2197C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg733Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Arg733_Gln1521delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5122,
          "referenceAllele": "C",
          "start": 5121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.2371C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Arg791Ter",
        "hgvsWellDefined": "XP_016867486.1:p.Arg791_Gln1579delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256984",
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg792Ter",
        "hgvsWellDefined": "NP_000159.3:p.Arg792_Gln1580delinsLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.2374C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.2374C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg792Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg792Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}