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}, "protein": { "Ensembl": { "hgvs": "ENSP00000263038.4:p.Tyr133Ter" }, "RefSeq": { "hgvs": "NP_006205.1:p.Tyr133Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825380725", "coordinates": [ { "allele": "G", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001037537.2:c.99C>G" ], "proteinEffect": { "hgvs": "NP_001032626.1:p.Tyr33Ter", "hgvsWellDefined": 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"NM_001323080.2:c.99C>G" ], "proteinEffect": { "hgvs": "NP_001310009.1:p.Tyr33Ter", "hgvsWellDefined": "NP_001310009.1:p.Tyr33_Leu238delinsCysThrLeuProGluIleLeuLysTyrValGluCysPheThrGlyProAsnIleMetAlaMetHisThrMetLeuIleAsnLysProProAspSerGlyLysLysThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718298" }, { "@id": "http://reg.genome.network/allele/PA2827185664", "coordinates": [ { "allele": "G", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001323082.2:c.399C>G" ], "proteinEffect": { "hgvs": "NP_001310011.1:p.Tyr133Ter", "hgvsWellDefined": "NP_001310011.1:p.Tyr133_Leu340delinsCysThrLeuProGluIleLeuLysTyrValGluCysPheThrGlyProAsnIleMetAlaMetHisThrMetLeuIleAsnLysProProAspSerGlyAsnCysLysLysThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718299" }, { "@id": "http://reg.genome.network/allele/PA2827185859", "coordinates": [ { "allele": "G", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001323083.2:c.399C>G" ], "proteinEffect": { "hgvs": "NP_001310012.1:p.Tyr133Ter", "hgvsWellDefined": "NP_001310012.1:p.Tyr133_Leu250delinsCysThrLeuProGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718300" }, { "@id": "http://reg.genome.network/allele/PA2741860771", "coordinates": [ { "allele": "G", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN008940", "geneNCBI_id": 5264, "geneSymbol": "PHYH", "hgvs": [ "NM_001323084.2:c.99C>G" ], "proteinEffect": { "hgvs": "NP_001310013.1:p.Tyr33Ter", "hgvsWellDefined": "NP_001310013.1:p.Tyr33_Leu240delinsCysThrLeuProGluIleLeuLysTyrValGluCysPheThrGlyProAsnIleMetAlaMetHisThrMetLeuIleAsnLysProProAspSerGlyAsnCysLysLysThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718301" } ], "type": "nucleotide" }