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"ENSP00000507471.1:p.Gly245_Met556delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829579" }, { "coordinates": [ { "allele": "T", "end": 1022, "endIntronDirection": "+", "endIntronOffset": 2000, "referenceAllele": "G", "start": 1022, "startIntronDirection": "+", "startIntronOffset": 1999 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684641.1:c.831+2000G>T" ], "proteinEffect": { "hgvs": "ENSP00000507642.1:n.831+2000G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829592" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684675.1:c.916G>T" ], "proteinEffect": { "hgvs": "ENSP00000506934.1:p.Gly306Ter", "hgvsWellDefined": "ENSP00000506934.1:p.Gly306_Tyr397delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerGluArgGluArgMetGlnSerLysTrpLeuProPheSerLeuTyrGlnAsnSerProPheLeuValValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829626" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "G", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000684749.1:n.985G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829699" }, { "coordinates": [ { "allele": "T", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.6:c.916G>T" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Gly306Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Gly306_Met617delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758258", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.916G>T" }, "RefSeq": { "hgvs": "NM_004453.4:c.916G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Gly306Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Gly306Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "G", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000307738.5:c.775G>T" ], "proteinEffect": { "hgvs": "ENSP00000303552.5:p.Gly259Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS255936" }, { "coordinates": [ { "allele": "T", "end": 86, "endIntronDirection": "-", "endIntronOffset": 5779, "referenceAllele": "G", "start": 86, "startIntronDirection": "-", "startIntronOffset": 5780 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000506422.1:n.87-5780G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS337962" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "G", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000507475.5:c.421G>T" ], "proteinEffect": { "hgvs": "ENSP00000422735.1:p.Gly141Ter", "hgvsWellDefined": "ENSP00000422735.1:p.Gly141Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS338754" }, { "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "ENST00000511912.5:c.916G>T" ], "proteinEffect": { "hgvs": "ENSP00000426638.1:p.Gly306Ter", "hgvsWellDefined": "ENSP00000426638.1:p.Gly306_Met617delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342075" }, { "@id": "http://reg.genome.network/allele/PA2826593447", "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.1:c.775G>T" ], "proteinEffect": { "hgvs": "NP_001268666.1:p.Gly259Ter", "hgvsWellDefined": "NP_001268666.1:p.Gly259_Met570delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021701" }, { "@id": "http://reg.genome.network/allele/PA2826594589", "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281738.1:c.733G>T" ], "proteinEffect": { "hgvs": "NP_001268667.1:p.Gly245Ter", "hgvsWellDefined": "NP_001268667.1:p.Gly245_Met556delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021702" }, { "@id": "http://reg.genome.network/allele/PA2741911701", "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.3:c.916G>T" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Gly306Ter", "hgvsWellDefined": "NP_004444.2:p.Gly306_Met617delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029615" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "G", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "XM_024453935.1:c.733G>T" ], "proteinEffect": { "hgvs": "XP_024309703.1:p.Gly245Ter", "hgvsWellDefined": "XP_024309703.1:p.Gly245_Met556delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587307" }, { "@id": "http://reg.genome.network/allele/PA2741911701", "coordinates": [ { "allele": "T", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_004453.4:c.916G>T" ], "proteinEffect": { "hgvs": "NP_004444.2:p.Gly306Ter", "hgvsWellDefined": "NP_004444.2:p.Gly306_Met617delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000511912.6:c.916G>T" }, "RefSeq": { "hgvs": "NM_004453.4:c.916G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000426638.1:p.Gly306Ter" }, "RefSeq": { "hgvs": "NP_004444.2:p.Gly306Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826593447", "coordinates": [ { "allele": "T", "end": 936, "referenceAllele": "G", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN003483", "geneNCBI_id": 2110, "geneSymbol": "ETFDH", "hgvs": [ "NM_001281737.2:c.775G>T" ], "proteinEffect": { "hgvs": "NP_001268666.1:p.Gly259Ter", "hgvsWellDefined": "NP_001268666.1:p.Gly259_Met570delinsSerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715722" } ], "type": "nucleotide" }