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"MEN1", "hgvs": [ "NM_001370251.1:c.1353C>A" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Cys451Ter", "hgvsWellDefined": "NP_001357180.1:p.Cys451_Leu652delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "@id": "http://reg.genome.network/allele/PA2828396721", "coordinates": [ { "allele": "A", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": 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"Ensembl": { "hgvs": "ENST00000450708.7:c.1227C>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.1227C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Cys409Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Cys409Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.1227C>A" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Cys409Ter", "hgvsWellDefined": "NP_001357189.1:p.Cys409_Leu610delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "C", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.1227C>A" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Cys409Ter", "hgvsWellDefined": "NP_001357190.1:p.Cys409_Leu610delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "C", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.1122C>A" ], "proteinEffect": { "hgvs": "NP_001357191.1:p.Cys374Ter", "hgvsWellDefined": "NP_001357191.1:p.Cys374_Leu575delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "A", "end": 1183, "referenceAllele": "C", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.1122C>A" ], "proteinEffect": { "hgvs": "NP_001357192.1:p.Cys374Ter", "hgvsWellDefined": "NP_001357192.1:p.Cys374_Leu575delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825101119", "coordinates": [ { "allele": "A", "end": 1322, "referenceAllele": "C", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.1242C>A" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Cys414Ter", "hgvsWellDefined": "NP_000235.3:p.Cys414_Leu615delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2828395144", "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "C", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.1353C>A" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Cys451Ter", "hgvsWellDefined": "NP_001357180.2:p.Cys451_Leu652delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828398371", "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.1227C>A" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Cys409Ter", "hgvsWellDefined": "NP_001357189.2:p.Cys409_Leu610delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828400023", "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "C", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.1227C>A" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Cys409Ter", "hgvsWellDefined": "NP_001357190.2:p.Cys409_Leu610delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "@id": "http://reg.genome.network/allele/PA2828401584", "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "C", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.1122C>A" ], "proteinEffect": { "hgvs": "NP_001357191.2:p.Cys374Ter", "hgvsWellDefined": "NP_001357191.2:p.Cys374_Leu575delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "@id": "http://reg.genome.network/allele/PA2828403145", "coordinates": [ { "allele": "A", "end": 1183, "referenceAllele": "C", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.1122C>A" ], "proteinEffect": { "hgvs": "NP_001357192.2:p.Cys374Ter", "hgvsWellDefined": "NP_001357192.2:p.Cys374_Leu575delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830171373", "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.1227C>A" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Cys409Ter", "hgvsWellDefined": "NP_570711.2:p.Cys409_Leu610delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830173033", "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.1242C>A" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Cys414Ter", "hgvsWellDefined": "NP_570712.2:p.Cys414_Leu615delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830174692", "coordinates": [ { "allele": "A", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.1242C>A" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Cys414Ter", "hgvsWellDefined": "NP_570713.2:p.Cys414_Leu615delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830176353", "coordinates": [ { "allele": "A", "end": 1549, "referenceAllele": "C", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.1242C>A" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Cys414Ter", "hgvsWellDefined": "NP_570714.2:p.Cys414_Leu615delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830178012", "coordinates": [ { "allele": "A", "end": 1746, "referenceAllele": "C", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.1242C>A" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Cys414Ter", "hgvsWellDefined": "NP_570715.2:p.Cys414_Leu615delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2830178965", "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "C", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.1242C>A" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Cys414Ter", "hgvsWellDefined": "NP_570716.2:p.Cys414_Leu615delinsPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }