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"NP_003979.2:p.Gln145_Tyr396delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029189" }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003989.3:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003980.2:p.Gln144Ter", "hgvsWellDefined": "NP_003980.2:p.Gln145_Val408delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029190" }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.3:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003981.2:p.Gln144Ter", "hgvsWellDefined": "NP_003981.2:p.Gln145_Val431delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029191" }, { "@id": "http://reg.genome.network/allele/PA2825138405", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_000278.4:c.430C>T" ], "proteinEffect": { "hgvs": "NP_000269.3:p.Gln144Ter", "hgvsWellDefined": "NP_000269.3:p.Gln145_His394delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510775" }, { "@id": "http://reg.genome.network/allele/PA2829479483", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003987.4:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003978.3:p.Gln144Ter", "hgvsWellDefined": "NP_003978.3:p.Gln145_His417delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525158" }, { "@id": "http://reg.genome.network/allele/PA2829479807", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003988.4:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003979.2:p.Gln144Ter", "hgvsWellDefined": "NP_003979.2:p.Gln145_Tyr396delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525159" }, { "@id": "http://reg.genome.network/allele/PA2829480215", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003989.4:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003980.3:p.Gln144Ter", "hgvsWellDefined": "NP_003980.3:p.Gln145_Val409delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525160" }, { "@id": "http://reg.genome.network/allele/PA2829480482", "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.4:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003981.3:p.Gln144Ter", "hgvsWellDefined": "NP_003981.3:p.Gln145_Val432delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525161" }, { "@id": "http://reg.genome.network/allele/PA2825138405", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_000278.5:c.430C>T" ], "proteinEffect": { "hgvs": "NP_000269.3:p.Gln144Ter", "hgvsWellDefined": "NP_000269.3:p.Gln145_His394delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674773", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355243.8:c.430C>T" }, "RefSeq": { "hgvs": "NM_000278.5:c.430C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347385.3:p.Gln144Ter" }, "RefSeq": { "hgvs": "NP_000269.3:p.Gln144Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499247353", "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "C", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_001304569.2:c.523C>T" ], "proteinEffect": { "hgvs": "NP_001291498.1:p.Gln175Ter", "hgvsWellDefined": "NP_001291498.1:p.Gln176_His425delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683727" }, { "@id": "http://reg.genome.network/allele/PA2829479483", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003987.5:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003978.3:p.Gln144Ter", "hgvsWellDefined": "NP_003978.3:p.Gln145_His417delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696006" }, { "@id": "http://reg.genome.network/allele/PA2829479807", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003988.5:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003979.2:p.Gln144Ter", "hgvsWellDefined": "NP_003979.2:p.Gln145_Tyr396delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696007" }, { "@id": "http://reg.genome.network/allele/PA2829480215", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003989.5:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003980.3:p.Gln144Ter", "hgvsWellDefined": "NP_003980.3:p.Gln145_Val409delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696008" }, { "@id": "http://reg.genome.network/allele/PA2829480482", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.5:c.430C>T" ], "proteinEffect": { "hgvs": "NP_003981.3:p.Gln144Ter", "hgvsWellDefined": "NP_003981.3:p.Gln145_Val432delinsProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696009" } ], "type": "nucleotide" }