{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367655348", "communityStandardTitle": [ "NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2907175[alleleid]", "alleleId": 2907175, "preferredName": "NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2743822", "RCV": [ "RCV003494987" ], "variationId": 2743822 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65447080G>A?assembly=hg19", "id": "chr7:g.65447080G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65982093G>A?assembly=hg38", "id": "chr7:g.65982093G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2484858214", "rs": 2484858214 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65982093, "referenceAllele": "G", "start": 65982092 } ], "hgvs": [ "NC_000007.14:g.65982093G>A", "CM000669.2:g.65982093G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65447080, "referenceAllele": "G", "start": 65447079 } ], "hgvs": [ "NC_000007.13:g.65447080G>A", "CM000669.1:g.65447080G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65084515, "referenceAllele": "G", "start": 65084514 } ], "hgvs": [ "NC_000007.12:g.65084515G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 5222, "referenceAllele": "C", "start": 5221 } ], "hgvs": [ "NG_016197.1:g.5222C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003003" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 121, "referenceAllele": "C", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000304895.9:c.91C>T" ], "proteinEffect": { "hgvs": "ENSP00000302728.4:p.Gln31Ter", "hgvsWellDefined": "ENSP00000302728.4:p.Gln31_Thr651delinsGluSerProSerArgGluCysLysGluLeuAspGlyLeuTrpSerPheArgAlaAspPheSerAspAsnArgArgArgGlyPheGluGluGlnTrpTyrArgArgProLeuTrpGluSerGlyProThrValAspMetProValProSerSerPheAsnAspIleSerGlnAspTrpArgLeuArgHisPheValGlyTrpValTrpTyrGluArgGluValIleLeuProGluArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlyProLeuProSerArgLeuArgIleThrIleAlaIleAsnAsnThrLeuThrProThrThrLeuProProGlyThrIleGlnTyrLeuThrAspThrSerLysTyrProLysGlyTyrPheValGlnAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745155", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304895.9:c.91C>T" }, "RefSeq": { "hgvs": "NM_000181.4:c.91C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000302728.4:p.Gln31Ter" }, "RefSeq": { "hgvs": "NP_000172.2:p.Gln31Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000304895.8:c.91C>T" ], "proteinEffect": { "hgvs": "ENSP00000302728.4:p.Gln31Ter", "hgvsWellDefined": "ENSP00000302728.4:p.Gln31_Thr651delinsGluSerProSerArgGluCysLysGluLeuAspGlyLeuTrpSerPheArgAlaAspPheSerAspAsnArgArgArgGlyPheGluGluGlnTrpTyrArgArgProLeuTrpGluSerGlyProThrValAspMetProValProSerSerPheAsnAspIleSerGlnAspTrpArgLeuArgHisPheValGlyTrpValTrpTyrGluArgGluValIleLeuProGluArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlyProLeuProSerArgLeuArgIleThrIleAlaIleAsnAsnThrLeuThrProThrThrLeuProProGlyThrIleGlnTyrLeuThrAspThrSerLysTyrProLysGlyTyrPheValGlnAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255527" }, { "coordinates": [ { "allele": "T", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000421103.5:c.91C>T" ], "proteinEffect": { "hgvs": "ENSP00000391390.1:p.Gln31Ter", "hgvsWellDefined": "ENSP00000391390.1:p.Gln31_Thr505delinsGluSerProSerArgGluCysLysGluLeuAspGlyLeuTrpSerPheArgAlaAspPheSerAspAsnArgArgArgGlyPheGluGluGlnTrpTyrArgArgProLeuTrpGluSerGlyProThrValAspMetProValProSerSerPheAsnAspIleSerGlnAspTrpArgLeuArgHisPheValGlyTrpValTrpTyrGluArgGluValIleLeuProGluArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286638" }, { "coordinates": [ { "allele": "T", "end": 123, "referenceAllele": "C", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000430730.5:c.91C>T" ], "proteinEffect": { "hgvs": "ENSP00000411859.1:p.Gln31Ter", "hgvsWellDefined": "ENSP00000411859.1:p.Gln31_Trp134delinsGluSerProSerArgGluCysLysGluLeuAspGlyLeuTrpSerPheArgAlaAspPheSerAspAsnArgArgArgGlyPheGluGluGlnTrpTyrArgArgProLeuTrpGluSerGlyProThrValAspMetProValProSerSerPheAsnAspIleSerGlnAspTrpArgLeuArgHisPheValGlyTrpValTrpTyrGluArgGluValIleLeuProGluArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS291283" }, { "coordinates": [ { "allele": "T", "end": 121, "referenceAllele": "C", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000446111.1:c.91C>T" ], "proteinEffect": { "hgvs": "ENSP00000416793.1:p.Gln31Ter", "hgvsWellDefined": "ENSP00000416793.1:p.Gln31_Phe144delinsGluSerProSerArgGluCysLysGluLeuAspGlyLeuTrpSerPheArgAlaAspPheSerAspAsnArgArgArgGlyPheGluGluGlnTrpTyrArgArgProLeuTrpGluSerGlyProThrValAspMetProValProSerSerPheAsnAspIleSerGlnAspTrpArgLeuArgHisPheValGlyTrpValTrpTyrGluArgGluValIleLeuProGluArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValValSerGlnGlyLeuLeuCysProGluHisIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298587" }, { "coordinates": [ { "allele": "T", "end": 104, "referenceAllele": "C", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000447929.5:c.91C>T" ], "proteinEffect": { "hgvs": "ENSP00000411262.1:p.Gln31Ter", "hgvsWellDefined": "ENSP00000411262.1:p.Gln31_Phe144delinsGluSerProSerArgGluCysLysGluLeuAspGlyLeuTrpSerPheArgAlaAspPheSerAspAsnArgArgArgGlyPheGluGluGlnTrpTyrArgArgProLeuTrpGluSerGlyProThrValAspMetProValProSerSerPheAsnAspIleSerGlnAspTrpArgLeuArgHisPheValGlyTrpValTrpTyrGluArgGluValIleLeuProGluArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValValSerGlnGlyLeuLeuCysProGluHisIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299491" }, { "@id": "http://reg.genome.network/allele/PA2825094542", "coordinates": [ { "allele": "T", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_000181.3:c.91C>T" ], "proteinEffect": { "hgvs": "NP_000172.2:p.Gln31Ter", "hgvsWellDefined": "NP_000172.2:p.Gln31_Thr651delinsGluSerProSerArgGluCysLysGluLeuAspGlyLeuTrpSerPheArgAlaAspPheSerAspAsnArgArgArgGlyPheGluGluGlnTrpTyrArgArgProLeuTrpGluSerGlyProThrValAspMetProValProSerSerPheAsnAspIleSerGlnAspTrpArgLeuArgHisPheValGlyTrpValTrpTyrGluArgGluValIleLeuProGluArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlyProLeuProSerArgLeuArgIleThrIleAlaIleAsnAsnThrLeuThrProThrThrLeuProProGlyThrIleGlnTyrLeuThrAspThrSerLysTyrProLysGlyTyrPheValGlnAsnThrTyrPheAspPhePheAsnTyrAlaGlyLeuGlnArgSerValLeuLeuTyrThrThrProThrThrTyrIleAspAspIleThrValThrThrSerValGluGlnAspSerGlyLeuValAsnTyrGlnIleSerValLysGlySerAsnLeuPheLysLeuGluValArgLeuLeuAspAlaGluAsnLysValValAlaAsnGlyThrGlyThrGlnGlyGlnLeuLysValProGlyValSerLeuTrpTrpProTyrLeuMetHisGluArgProAlaTyrLeuTyrSerLeuGluValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006243" }, { "@id": "http://reg.genome.network/allele/PA2741853207", "coordinates": [ { "allele": "T", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001284290.1:c.91C>T" ], "proteinEffect": { "hgvs": "NP_001271219.1:p.Gln31Ter", "hgvsWellDefined": "NP_001271219.1:p.Gln31_Thr505delinsGluSerProSerArgGluCysLysGluLeuAspGlyLeuTrpSerPheArgAlaAspPheSerAspAsnArgArgArgGlyPheGluGluGlnTrpTyrArgArgProLeuTrpGluSerGlyProThrValAspMetProValProSerSerPheAsnAspIleSerGlnAspTrpArgLeuArgHisPheValGlyTrpValTrpTyrGluArgGluValIleLeuProGluArgTrpThrGlnAspLeuArgThrArgValValLeuArgIleGlySerAlaHisSerTyrAlaIleValTrpValAsnGlyValAspThrLeuGluHisGluGlyGlyTyrLeuProPheGluAlaAspIleSerAsnLeuValGlnValGlnLeuThrAlaGlnThrSerLeuGlyProValSerAspPheTyrThrLeuProValGlyIleArgThrValAlaValThrLysSerGlnPheLeuIleAsnGlyLysProPheTyrPheHisGlyValAsnLysHisGluAspAlaAspIleArgGlyLysGlyPheAspTrpProLeuLeuValLysAspPheAsnLeuLeuArgTrpLeuGlyAlaAsnAlaPheArgThrSerHisTyrProTyrAlaGluGluValMetGlnMetCysAspArgTyrGlyIleValValIleAspGluCysProGlyValGlyLeuAlaLeuProGlnPhePheAsnAsnValSerLeuHisHisHisMetGlnValMetGluGluValValArgArgAspLysAsnHisProAlaValValMetTrpSerValAlaAsnGluProAlaSerHisLeuGluSerAlaGlyTyrTyrLeuLysMetValIleAlaHisThrLysSerLeuAspProSerArgProValThrPheValSerAsnSerAsnTyrAlaAlaAspLysGlyAlaProTyrValAspValIleCysLeuAsnSerTyrTyrSerTrpTyrHisAspTyrGlyHisLeuGluLeuIleGlnLeuGlnLeuAlaThrGlnPheGluAsnTrpTyrLysLysTyrGlnLysProIleIleGlnSerGluTyrGlyAlaGluThrIleAlaGlyPheHisGlnAspProProLeuMetPheThrGluGluTyrGlnLysSerLeuLeuGluGlnTyrHisLeuGlyLeuAspGlnLysArgArgLysTyrValValGlyGluLeuIleTrpAsnPheAlaAspPheMetThrGluGlnSerProThrArgValLeuGlyAsnLysLysGlyIlePheThrArgGlnArgGlnProLysSerAlaAlaPheLeuLeuArgGluArgTyrTrpLysIleAlaAsnGluThrArgTyrProHisSerValAlaLysSerGlnCysLeuGluAsnSerLeuPheThrTer" 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"referenceSequence": "http://reg.genome.network/refseq/RS055408" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_005250297.3:c.91C>T" ], "proteinEffect": { "hgvs": "XP_005250354.1:p.Gln31Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS703205" } ], "type": "nucleotide" }