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"G", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.1:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121172.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011682" }, { "@id": "http://reg.genome.network/allele/PA658832045", "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.1:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121173.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011683" }, { "@id": "http://reg.genome.network/allele/PA2825656142", "coordinates": [ { "allele": "A", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.1:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Trp218Ter", "hgvsWellDefined": 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"proteinEffect": { "hgvs": "NP_001121175.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121175.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011685" }, { "@id": "http://reg.genome.network/allele/PA2825656744", "coordinates": [ { "allele": "A", "end": 1187, "referenceAllele": "G", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.1:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121176.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011686" }, { "@id": "http://reg.genome.network/allele/PA2825657045", "coordinates": [ { "allele": "A", "end": 1205, "referenceAllele": "G", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.1:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121177.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011687" }, { "@id": "http://reg.genome.network/allele/PA2825657346", "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "G", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.1:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121178.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011688" }, { "@id": "http://reg.genome.network/allele/PA915968321", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.1:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121179.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011689" }, { "coordinates": [ { "allele": "A", "end": 1095, "referenceAllele": "G", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "XM_017021370.1:c.654G>A" ], "proteinEffect": { "hgvs": "XP_016876859.1:p.Trp218Ter", "hgvsWellDefined": "XP_016876859.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572590" }, { "@id": "http://reg.genome.network/allele/PA2825108595", "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "G", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.5:c.654G>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Trp218Ter", "hgvsWellDefined": "NP_000286.3:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.654G>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.654G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Trp218Ter" }, "RefSeq": { "hgvs": "NP_000286.3:p.Trp218Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825244954", "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.3:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Trp218Ter", "hgvsWellDefined": "NP_001002235.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675068" }, { "@id": "http://reg.genome.network/allele/PA2825245612", "coordinates": [ { "allele": "A", "end": 1151, "referenceAllele": "G", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.3:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Trp218Ter", "hgvsWellDefined": "NP_001002236.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675069" }, { "@id": "http://reg.genome.network/allele/PA2825655643", "coordinates": [ { "allele": "A", "end": 874, "referenceAllele": "G", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.2:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121172.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676934" }, { "@id": "http://reg.genome.network/allele/PA658832045", "coordinates": [ { "allele": "A", "end": 1170, "referenceAllele": "G", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.2:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121173.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676935" }, { "@id": "http://reg.genome.network/allele/PA2825656142", "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.2:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121174.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676936" }, { "@id": "http://reg.genome.network/allele/PA2825656443", "coordinates": [ { "allele": "A", "end": 1133, "referenceAllele": "G", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.2:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121175.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676937" }, { "@id": "http://reg.genome.network/allele/PA2825656744", "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "G", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.2:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121176.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676938" }, { "@id": "http://reg.genome.network/allele/PA2825657045", "coordinates": [ { "allele": "A", "end": 1148, "referenceAllele": "G", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.2:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121177.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676939" }, { "@id": "http://reg.genome.network/allele/PA2825657346", "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.2:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121178.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676940" }, { "@id": "http://reg.genome.network/allele/PA915968321", "coordinates": [ { "allele": "A", "end": 938, "referenceAllele": "G", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.2:c.654G>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Trp218Ter", "hgvsWellDefined": "NP_001121179.1:p.Trp218_Lys418delinsGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676941" } ], "type": "nucleotide" }