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"ENSP00000507471.1:p.Trp225_Met556delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829579" }, { "coordinates": [ { "allele": "A", "end": 1022, "endIntronDirection": "+", "endIntronOffset": 1941, "referenceAllele": "G", "start": 1022, "startIntronDirection": "+", "startIntronOffset": 1940 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684641.1:c.831+1941G>A" ], "proteinEffect": { "hgvs": "ENSP00000507642.1:n.831+1941G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829592" }, { "coordinates": [ { "allele": "A", "end": 1048, "referenceAllele": "G", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684675.1:c.857G>A" ], "proteinEffect": { "hgvs": "ENSP00000506934.1:p.Trp286Ter", "hgvsWellDefined": "ENSP00000506934.1:p.Trp286_Tyr397delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerGluArgGluArgMetGlnSerLysTrpLeuProPheSerLeuTyrGlnAsnSerProPheLeuValValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829626" }, { "coordinates": [ { "allele": "A", "end": 926, "referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684749.1:n.926G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829699" }, { "coordinates": [ { "allele": "A", "end": 1018, "referenceAllele": "G", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.6:c.857G>A" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Trp286Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Trp286_Met617delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758258", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.857G>A" }, "RefSeq": { "hgvs": "NM_004453.4:c.857G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Trp286Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Trp286Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000307738.5:c.716G>A" ], "proteinEffect": { "hgvs": "ENSP00000303552.5:p.Trp239Ter", "hgvsWellDefined": "ENSP00000303552.5:p.Trp239_Met570delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255936" }, { "coordinates": [ { "allele": "A", "end": 86, "endIntronDirection": "-", "endIntronOffset": 5838, "referenceAllele": "G", "start": 86, "startIntronDirection": "-", "startIntronOffset": 5839 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000506422.1:n.87-5839G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS337962" }, { "coordinates": [ { "allele": "A", "end": 636, "referenceAllele": "G", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000507475.5:c.362G>A" ], "proteinEffect": { "hgvs": "ENSP00000422735.1:p.Trp121Ter", "hgvsWellDefined": "ENSP00000422735.1:p.Trp121Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS338754" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.5:c.857G>A" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Trp286Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Trp286_Met617delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342075" }, { "@id": "http://reg.genome.network/allele/PA2826593426", "coordinates": [ { "allele": "A", "end": 1072, "referenceAllele": "G", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.1:c.716G>A" ], "proteinEffect": { "hgvs": "NP_001268666.1:p.Trp239Ter", "hgvsWellDefined": "NP_001268666.1:p.Trp239_Met570delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021701" }, { "@id": "http://reg.genome.network/allele/PA2826594554", "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281738.1:c.674G>A" ], "proteinEffect": { "hgvs": "NP_001268667.1:p.Trp225Ter", "hgvsWellDefined": "NP_001268667.1:p.Trp225_Met556delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021702" }, { "@id": "http://reg.genome.network/allele/PA1139703169", "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.3:c.857G>A" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Trp286Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS029615" }, { "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "G", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "XM_024453935.1:c.674G>A" ], "proteinEffect": { "hgvs": "XP_024309703.1:p.Trp225Ter", "hgvsWellDefined": "XP_024309703.1:p.Trp225_Met556delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587307" }, { "@id": "http://reg.genome.network/allele/PA1139703169", "coordinates": [ { "allele": "A", "end": 1018, "referenceAllele": "G", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.4:c.857G>A" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Trp286Ter", "hgvsWellDefined": "NP_004444.2:p.Trp286_Met617delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.857G>A" }, "RefSeq": { "hgvs": "NM_004453.4:c.857G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Trp286Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Trp286Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826593426", "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.2:c.716G>A" ], "proteinEffect": { "hgvs": "NP_001268666.1:p.Trp239Ter", "hgvsWellDefined": "NP_001268666.1:p.Trp239_Met570delinsLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715722" } ], "type": "nucleotide" }