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}, "referenceSequence": "http://reg.genome.network/refseq/RS104886" }, { "coordinates": [ { "allele": "T", "end": 3295, "referenceAllele": "C", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537929.1:c.2938C>T" ], "proteinEffect": { "hgvs": "XP_011536231.1:p.Arg980Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104887" }, { "coordinates": [ { "allele": "T", "end": 3296, "referenceAllele": "C", "start": 3295 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537930.1:c.2938C>T" ], "proteinEffect": { "hgvs": "XP_011536232.1:p.Arg980Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104888" }, { "coordinates": [ { "allele": "T", "end": 3278, "referenceAllele": "C", "start": 3277 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537931.1:c.2938C>T" ], "proteinEffect": { "hgvs": "XP_011536233.1:p.Arg980Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104889" }, { "coordinates": [ { "allele": "T", "end": 3622, "referenceAllele": "C", "start": 3621 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537932.1:c.2938C>T" ], "proteinEffect": { "hgvs": "XP_011536234.1:p.Arg980Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104890" }, { "coordinates": [ { "allele": "T", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537933.1:c.2938C>T" ], "proteinEffect": { "hgvs": "XP_011536235.1:p.Arg980Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104892" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537935.1:c.1882C>T" ], "proteinEffect": { "hgvs": "XP_011536237.1:p.Arg628Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104893" }, { "coordinates": [ { "allele": "T", "end": 3060, "referenceAllele": "C", "start": 3059 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_017018828.1:c.2938C>T" ], "proteinEffect": { "hgvs": "XP_016874317.1:p.Arg980Ter", "hgvsWellDefined": "XP_016874317.1:p.Arg980_Leu1535delinsGlyAspSerGlyProProGlyArgAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570670" }, { "coordinates": [ { "allele": "T", "end": 3057, "referenceAllele": "C", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_017018829.1:c.2935C>T" ], "proteinEffect": { "hgvs": "XP_016874318.1:p.Arg979Ter", "hgvsWellDefined": "XP_016874318.1:p.Arg979_Leu1534delinsGlyAspSerGlyProProGlyArgAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570671" }, { "coordinates": [ { "allele": "T", "end": 2850, "referenceAllele": "C", "start": 2849 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_017018830.1:c.2728C>T" ], "proteinEffect": { "hgvs": "XP_016874319.1:p.Arg910Ter", "hgvsWellDefined": "XP_016874319.1:p.Arg910_Leu1465delinsGlyAspSerGlyProProGlyArgAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570672" }, { "coordinates": [ { "allele": "T", "end": 3283, "referenceAllele": "C", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_017018831.2:c.2248C>T" ], "proteinEffect": { "hgvs": "XP_016874320.1:p.Arg750Ter", "hgvsWellDefined": "XP_016874320.1:p.Arg750_Leu1305delinsGlyAspSerGlyProProGlyArgAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570673" }, { "@id": "http://reg.genome.network/allele/PA281741", "coordinates": [ { "allele": "T", "end": 2949, "referenceAllele": "C", "start": 2948 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "NM_001844.5:c.2794C>T" ], "proteinEffect": { "hgvs": "NP_001835.3:p.Arg932Ter", "hgvsWellDefined": "NP_001835.3:p.Arg932_Leu1487delinsGlyAspSerGlyProProGlyArgAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665206", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380518.8:c.2794C>T" }, "RefSeq": { "hgvs": "NM_001844.5:c.2794C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369889.3:p.Arg932Ter" }, "RefSeq": { "hgvs": "NP_001835.3:p.Arg932Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA281740", "coordinates": [ { "allele": "T", "end": 2742, "referenceAllele": "C", "start": 2741 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "NM_033150.3:c.2587C>T" ], "proteinEffect": { "hgvs": "NP_149162.2:p.Arg863Ter", "hgvsWellDefined": "NP_149162.2:p.Arg863_Leu1418delinsGlyAspSerGlyProProGlyArgAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699283" } ], "type": "nucleotide" }