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"end": 849, "referenceAllele": "T", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001184967.2:c.608T>A" ], "proteinEffect": { "hgvs": "NP_001171896.1:p.Leu203Ter", "hgvsWellDefined": "NP_001171896.1:p.Leu203_Cys468delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679051" }, { "@id": "http://reg.genome.network/allele/PA2827881366", "coordinates": [ { "allele": "A", "end": 898, "referenceAllele": "T", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354604.2:c.764T>A" ], "proteinEffect": { "hgvs": "NP_001341533.1:p.Leu255Ter", "hgvsWellDefined": "NP_001341533.1:p.Leu255_Cys526delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690248", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000352241.9:c.764T>A" }, "RefSeq": { "hgvs": "NM_001354604.2:c.764T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295600.8:p.Leu255Ter" }, "RefSeq": { "hgvs": "NP_001341533.1:p.Leu255Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827881567", "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "T", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354605.2:c.761T>A" ], "proteinEffect": { "hgvs": "NP_001341534.1:p.Leu254Ter", "hgvsWellDefined": "NP_001341534.1:p.Leu254_Cys525delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690249" }, { "@id": "http://reg.genome.network/allele/PA2827881940", "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "T", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354606.2:c.761T>A" ], "proteinEffect": { "hgvs": "NP_001341535.1:p.Leu254Ter", "hgvsWellDefined": "NP_001341535.1:p.Leu254_Cys519delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690250" }, { "@id": "http://reg.genome.network/allele/PA2827882308", "coordinates": [ { "allele": "A", "end": 1027, "referenceAllele": "T", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354607.2:c.713T>A" ], "proteinEffect": { "hgvs": "NP_001341536.1:p.Leu238Ter", "hgvsWellDefined": "NP_001341536.1:p.Leu238_Cys503delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690251" }, { "@id": "http://reg.genome.network/allele/PA2827882655", "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "T", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_001354608.2:c.608T>A" ], "proteinEffect": { "hgvs": "NP_001341537.1:p.Leu203Ter", "hgvsWellDefined": "NP_001341537.1:p.Leu203_Cys468delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690252" }, { "@id": "http://reg.genome.network/allele/PA2830431212", "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "T", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198158.3:c.443T>A" ], "proteinEffect": { "hgvs": "NP_937801.1:p.Leu148Ter", "hgvsWellDefined": "NP_937801.1:p.Leu148_Cys413delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701263" }, { "@id": "http://reg.genome.network/allele/PA2830431802", "coordinates": [ { "allele": "A", "end": 898, "referenceAllele": "T", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198159.3:c.764T>A" ], "proteinEffect": { "hgvs": "NP_937802.1:p.Leu255Ter", "hgvsWellDefined": "NP_937802.1:p.Leu255_Cys520delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701264" }, { "@id": "http://reg.genome.network/allele/PA2830432726", "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "T", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198177.3:c.716T>A" ], "proteinEffect": { "hgvs": "NP_937820.1:p.Leu239Ter", "hgvsWellDefined": "NP_937820.1:p.Leu239_Cys504delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701267" }, { "@id": "http://reg.genome.network/allele/PA2580556450", "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "T", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_198178.3:c.275T>A" ], "proteinEffect": { "hgvs": "NP_937821.2:p.Leu92Ter", "hgvsWellDefined": "NP_937821.2:p.Leu92_Cys357delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701268" }, { "@id": "http://reg.genome.network/allele/PA2825105525", "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "T", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_000248.4:c.443T>A" ], "proteinEffect": { "hgvs": "NP_000239.1:p.Leu148Ter", "hgvsWellDefined": "NP_000239.1:p.Leu148_Cys419delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrAlaCysIlePheProThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710814", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394351.9:c.443T>A" }, "RefSeq": { "hgvs": "NM_000248.4:c.443T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377880.3:p.Leu148Ter" }, "RefSeq": { "hgvs": "NP_000239.1:p.Leu148Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829651163", "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "T", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN007105", "geneNCBI_id": 4286, "geneSymbol": "MITF", "hgvs": [ "NM_006722.3:c.761T>A" ], "proteinEffect": { "hgvs": "NP_006713.1:p.Leu254Ter", "hgvsWellDefined": "NP_006713.1:p.Leu254_Cys519delinsProValSerGlyAsnLeuIleAspLeuTyrGlyAsnGlnGlyLeuProProProGlyLeuThrIleSerAsnSerCysProAlaAsnLeuProAsnIleLysArgGluLeuThrGluSerGluAlaArgAlaLeuAlaLysGluArgGlnLysLysAspAsnHisAsnLeuIleGluArgArgArgArgPheAsnIleAsnAspArgIleLysGluLeuGlyThrLeuIleProLysSerAsnAspProAspMetArgTrpAsnLysGlyThrIleLeuLysAlaSerValAspTyrIleArgLysLeuGlnArgGluGlnGlnArgAlaLysGluLeuGluAsnArgGlnLysLysLeuGluHisAlaAsnArgHisLeuLeuLeuArgIleGlnGluLeuGluMetGlnAlaArgAlaHisGlyLeuSerLeuIleProSerThrGlyLeuCysSerProAspLeuValAsnArgIleIleLysGlnGluProValLeuGluAsnCysSerGlnAspLeuLeuGlnHisHisAlaAspLeuThrCysThrThrThrLeuAspLeuThrAspGlyThrIleThrPheAsnAsnAsnLeuGlyThrGlyThrGluAlaAsnGlnAlaTyrSerValProThrLysMetGlySerLysLeuGluAspIleLeuMetAspAspThrLeuSerProValGlyValThrAspProLeuLeuSerSerValSerProGlyAlaSerLysThrSerSerArgArgSerSerMetSerMetGluGluThrGluHisThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727772" } ], "type": "nucleotide" }