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"ENSP00000263038.4:p.Glu115Ter" }, "RefSeq": { "hgvs": "NP_006205.1:p.Glu115Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825380712", "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001037537.2:c.43G>T" ], "proteinEffect": { "hgvs": "NP_001032626.1:p.Glu15Ter", "hgvsWellDefined": "NP_001032626.1:p.Glu15_Leu238delinsLysMetIleThrLysValGlnAspPheGlnGluAspLysGluLeuPheArgTyrCysThrLeuProGluIleLeuLysTyrValGluCysPheThrGlyProAsnIleMetAlaMetHisThrMetLeuIleAsnLysProProAspSerGlyLysLysThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711576" }, { "@id": "http://reg.genome.network/allele/PA2827185370", "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001323080.2:c.43G>T" ], "proteinEffect": { "hgvs": "NP_001310009.1:p.Glu15Ter", "hgvsWellDefined": "NP_001310009.1:p.Glu15_Leu238delinsLysMetIleThrLysValGlnAspPheGlnGluAspLysGluLeuPheArgTyrCysThrLeuProGluIleLeuLysTyrValGluCysPheThrGlyProAsnIleMetAlaMetHisThrMetLeuIleAsnLysProProAspSerGlyLysLysThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718298" }, { "@id": "http://reg.genome.network/allele/PA2827185650", "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001323082.2:c.343G>T" ], "proteinEffect": { "hgvs": "NP_001310011.1:p.Glu115Ter", "hgvsWellDefined": "NP_001310011.1:p.Glu115_Leu340delinsLysMetIleThrLysValGlnAspPheGlnGluAspLysGluLeuPheArgTyrCysThrLeuProGluIleLeuLysTyrValGluCysPheThrGlyProAsnIleMetAlaMetHisThrMetLeuIleAsnLysProProAspSerGlyAsnCysLysLysThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718299" }, { "@id": "http://reg.genome.network/allele/PA2827185844", "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001323083.2:c.343G>T" ], "proteinEffect": { "hgvs": "NP_001310012.1:p.Glu115Ter", "hgvsWellDefined": "NP_001310012.1:p.Glu115_Leu250delinsLysMetIleThrLysValGlnAspPheGlnGluAspLysGluLeuPheArgTyrCysThrLeuProGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718300" }, { "@id": "http://reg.genome.network/allele/PA2741860768", "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001323084.2:c.43G>T" ], "proteinEffect": { "hgvs": "NP_001310013.1:p.Glu15Ter", "hgvsWellDefined": "NP_001310013.1:p.Glu15_Leu240delinsLysMetIleThrLysValGlnAspPheGlnGluAspLysGluLeuPheArgTyrCysThrLeuProGluIleLeuLysTyrValGluCysPheThrGlyProAsnIleMetAlaMetHisThrMetLeuIleAsnLysProProAspSerGlyAsnCysLysLysThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718301" } ], "type": "nucleotide" }