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"end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351127.2:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_001338056.1:p.Arg383Ter", "hgvsWellDefined": "NP_001338056.1:p.Arg383_Gln602delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688658" }, { "@id": "http://reg.genome.network/allele/PA2827590186", "coordinates": [ { "allele": "T", "end": 1301, "referenceAllele": "C", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351128.2:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_001338057.1:p.Arg383Ter", "hgvsWellDefined": "NP_001338057.1:p.Arg383_Gln602delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688659" }, { "@id": "http://reg.genome.network/allele/PA2827590716", "coordinates": [ { "allele": "T", "end": 1694, "referenceAllele": "C", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351130.3:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_001338059.1:p.Arg383Ter", "hgvsWellDefined": "NP_001338059.1:p.Arg383_Gln602delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688660" }, { "@id": "http://reg.genome.network/allele/PA2827591290", "coordinates": [ { "allele": "T", 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"http://reg.genome.network/refseq/RS688661" }, { "@id": "http://reg.genome.network/allele/PA2827591865", "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351132.2:c.1258C>T" ], "proteinEffect": { "hgvs": "NP_001338061.1:p.Arg420Ter", "hgvsWellDefined": "NP_001338061.1:p.Arg420_Gln639delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688662", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675855.1:c.1258C>T" }, "RefSeq": { "hgvs": "NM_001351132.2:c.1258C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502374.1:p.Arg420Ter" }, "RefSeq": { "hgvs": "NP_001338061.1:p.Arg420Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827592439", "coordinates": [ { "allele": "T", "end": 1534, "referenceAllele": "C", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351133.2:c.1258C>T" ], "proteinEffect": { "hgvs": "NP_001338062.1:p.Arg420Ter", "hgvsWellDefined": "NP_001338062.1:p.Arg420_Gln639delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688663" }, { "@id": "http://reg.genome.network/allele/PA2827593012", "coordinates": [ { "allele": "T", "end": 1412, "referenceAllele": "C", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351134.2:c.1258C>T" ], "proteinEffect": { "hgvs": "NP_001338063.1:p.Arg420Ter", "hgvsWellDefined": "NP_001338063.1:p.Arg420_Gln639delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688664" }, { "@id": "http://reg.genome.network/allele/PA2827593549", "coordinates": [ { "allele": "T", "end": 1503, "referenceAllele": "C", "start": 1502 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351135.3:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001338064.2:p.Arg398Ter", "hgvsWellDefined": "NP_001338064.2:p.Arg398_Gln617delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688665" }, { "@id": "http://reg.genome.network/allele/PA2827594118", "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351136.2:c.1249C>T" ], "proteinEffect": { "hgvs": "NP_001338065.1:p.Arg417Ter", "hgvsWellDefined": "NP_001338065.1:p.Arg417_Gln636delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688666" }, { "@id": "http://reg.genome.network/allele/PA2827594648", "coordinates": [ { "allele": "T", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351137.3:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_001338066.2:p.Arg383Ter", "hgvsWellDefined": "NP_001338066.2:p.Arg383_Gln602delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688667" }, { "@id": "http://reg.genome.network/allele/PA2827595104", "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351138.2:c.1192C>T" ], "proteinEffect": { "hgvs": "NP_001338067.1:p.Arg398Ter", "hgvsWellDefined": "NP_001338067.1:p.Arg398_Gln617delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688668" }, { "@id": "http://reg.genome.network/allele/PA2827595630", "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001351139.2:c.1123C>T" ], "proteinEffect": { "hgvs": "NP_001338068.1:p.Arg375Ter", "hgvsWellDefined": 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"geneSymbol": "PEX5", "hgvs": [ "NM_001351140.2:c.1123C>T" ], "proteinEffect": { "hgvs": "NP_001338069.1:p.Arg375Ter", "hgvsWellDefined": "NP_001338069.1:p.Arg375_Gln594delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688670" }, { "@id": "http://reg.genome.network/allele/PA2828531243", "coordinates": [ { "allele": "T", "end": 1226, "referenceAllele": "C", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374645.1:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_001361574.1:p.Arg383Ter", "hgvsWellDefined": "NP_001361574.1:p.Arg383_Gln602delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693333" }, { "@id": "http://reg.genome.network/allele/PA2828531773", "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "C", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374646.1:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_001361575.1:p.Arg383Ter", "hgvsWellDefined": "NP_001361575.1:p.Arg383_Gln602delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693334" }, { "@id": "http://reg.genome.network/allele/PA2828532346", "coordinates": [ { "allele": "T", "end": 1950, "referenceAllele": "C", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374647.2:c.1258C>T" ], "proteinEffect": { "hgvs": "NP_001361576.1:p.Arg420Ter", "hgvsWellDefined": "NP_001361576.1:p.Arg420_Gln639delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693335" }, { "@id": "http://reg.genome.network/allele/PA2828532876", "coordinates": [ { "allele": "T", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374648.2:c.1147C>T" ], "proteinEffect": { "hgvs": "NP_001361577.1:p.Arg383Ter", "hgvsWellDefined": "NP_001361577.1:p.Arg383_Gln602delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693336" }, { "@id": "http://reg.genome.network/allele/PA2828533353", "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN009719", "geneNCBI_id": 5830, "geneSymbol": "PEX5", "hgvs": [ "NM_001374649.2:c.1123C>T" ], "proteinEffect": { "hgvs": "NP_001361578.1:p.Arg375Ter", "hgvsWellDefined": "NP_001361578.1:p.Arg375_Gln594delinsGlnAlaCysGluThrLeuArgAspTrpLeuArgTyrThrProAlaTyrAlaHisLeuValThrProAlaGluGluGlyAlaGlyGlyAlaGlyLeuGlyProSerLysArgIleLeuGlySerLeuLeuSerAspSerLeuPheLeuGluValLysGluLeuPheLeuAlaAlaValArgLeuAspProThrSerIleAspProAspValGlnCysGlyLeuGlyValLeuPheAsnLeuSerGlyGluTyrAspLysAlaValAspCysPheThrAlaAlaLeuSerValArgProAsnAspTyrLeuLeuTrpAsnLysLeuGlyAlaThrLeuAlaAsnGlyAsnGlnSerGluGluAlaValAlaAlaTyrArgArgAlaLeuGluLeuGlnProGlyTyrIleArgSerArgTyrAsnLeuGlyIleSerCysIleAsnLeuGlyAlaHisArgGluAlaValGluHisPheLeuGluAlaLeuAsnMetGlnArgLysSerArgGlyProArgGlyGluGlyGlyAlaMetSerGluAsnIleTrpSerThrLeuArgLeuAlaLeuSerMetLeuGlyGlnSerAspAlaTyrGlyAlaAlaAspAlaArgAspLeuSerThrLeuLeuThrMetPheGlyLeuProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693337" } ], "type": "nucleotide" }