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], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374645.1:c.1168C>T" ], "proteinEffect": { "hgvs": "NP_001361574.1:p.Arg390Ter", "hgvsWellDefined": "NP_001361574.1:p.Arg390_Gln602delinsAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693333" }, { "@id": "http://reg.genome.network/allele/PA2828531781", "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374646.1:c.1168C>T" ], "proteinEffect": { "hgvs": "NP_001361575.1:p.Arg390Ter", "hgvsWellDefined": "NP_001361575.1:p.Arg390_Gln602delinsAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693334" }, { "@id": "http://reg.genome.network/allele/PA2828532353", "coordinates": [ { "allele": "T", "end": 1971, "referenceAllele": "C", "start": 1970 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374647.2:c.1279C>T" ], "proteinEffect": { "hgvs": "NP_001361576.1:p.Arg427Ter", "hgvsWellDefined": "NP_001361576.1:p.Arg427_Gln639delinsAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693335" }, { "@id": "http://reg.genome.network/allele/PA2828532883", "coordinates": [ { "allele": "T", "end": 1860, "referenceAllele": "C", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374648.2:c.1168C>T" ], "proteinEffect": { "hgvs": "NP_001361577.1:p.Arg390Ter", "hgvsWellDefined": "NP_001361577.1:p.Arg390_Gln602delinsAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693336" }, { "@id": "http://reg.genome.network/allele/PA2828533359", "coordinates": [ { "allele": "T", "end": 1836, "referenceAllele": "C", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374649.2:c.1144C>T" ], "proteinEffect": { "hgvs": "NP_001361578.1:p.Arg382Ter", "hgvsWellDefined": "NP_001361578.1:p.Arg382_Gln594delinsAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693337" } ], "type": "nucleotide" }