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}, "referenceSequence": "http://reg.genome.network/refseq/RS081525" }, { "coordinates": [ { "allele": "T", "end": 3414, "referenceAllele": "C", "start": 3413 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514301.1:c.3178C>T" ], "proteinEffect": { "hgvs": "XP_011512603.1:p.Arg1060Ter", "hgvsWellDefined": "XP_011512603.1:p.Arg1060_Gly1417delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081526" }, { "coordinates": [ { "allele": "T", "end": 3656, "referenceAllele": "C", "start": 3655 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514302.1:c.3022C>T" ], "proteinEffect": { "hgvs": "XP_011512604.1:p.Arg1008Ter", "hgvsWellDefined": "XP_011512604.1:p.Arg1008_Gly1365delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081527" }, { "coordinates": [ { "allele": "T", "end": 3654, "referenceAllele": "C", "start": 3653 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514299.2:c.3421C>T" ], "proteinEffect": { "hgvs": "XP_011512601.1:p.Arg1141Ter", "hgvsWellDefined": "XP_011512601.1:p.Arg1141_Gly1498delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543262" }, { "coordinates": [ { "allele": "T", "end": 3474, "referenceAllele": "C", "start": 3473 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514300.2:c.3241C>T" ], "proteinEffect": { "hgvs": "XP_011512602.1:p.Arg1081Ter", "hgvsWellDefined": "XP_011512602.1:p.Arg1081_Gly1438delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543263" }, { "coordinates": [ { "allele": "T", "end": 3675, "referenceAllele": "C", "start": 3674 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514302.2:c.3022C>T" ], "proteinEffect": { "hgvs": "XP_011512604.1:p.Arg1008Ter", "hgvsWellDefined": "XP_011512604.1:p.Arg1008_Gly1365delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543264" }, { "coordinates": [ { "allele": "T", "end": 4628, "referenceAllele": "C", "start": 4627 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_017010250.1:c.4135C>T" ], "proteinEffect": { "hgvs": "XP_016865739.1:p.Arg1379Ter", "hgvsWellDefined": "XP_016865739.1:p.Arg1379_Gly1736delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564355" }, { "coordinates": [ { "allele": "T", "end": 3517, "referenceAllele": "C", "start": 3516 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_017010251.2:c.2953C>T" ], "proteinEffect": { "hgvs": "XP_016865740.1:p.Arg985Ter", "hgvsWellDefined": "XP_016865740.1:p.Arg985_Gly1342delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564356" }, { "@id": "http://reg.genome.network/allele/PA281693", "coordinates": [ { "allele": "T", "end": 4362, "referenceAllele": "C", "start": 4361 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080680.3:c.4135C>T" ], "proteinEffect": { "hgvs": "NP_542411.2:p.Arg1379Ter", "hgvsWellDefined": "NP_542411.2:p.Arg1379_Gly1736delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699534", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341947.7:c.4135C>T" }, "RefSeq": { "hgvs": "NM_080680.3:c.4135C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000339915.2:p.Arg1379Ter" }, "RefSeq": { "hgvs": "NP_542411.2:p.Arg1379Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA281692", "coordinates": [ { "allele": "T", "end": 4104, "referenceAllele": "C", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080681.3:c.3877C>T" ], "proteinEffect": { "hgvs": "NP_542412.2:p.Arg1293Ter", "hgvsWellDefined": "NP_542412.2:p.Arg1293_Gly1650delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699535" }, { "@id": "http://reg.genome.network/allele/PA281691", "coordinates": [ { "allele": "T", "end": 4041, "referenceAllele": "C", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080679.3:c.3814C>T" ], "proteinEffect": { "hgvs": "NP_542410.2:p.Arg1272Ter", "hgvsWellDefined": "NP_542410.2:p.Arg1272_Gly1629delinsProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729056" } ], "type": "nucleotide" }