{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379097223", "communityStandardTitle": [ "NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3153623[alleleid]", "alleleId": 3153623, "preferredName": "NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2985561", "RCV": [ "RCV003841168" ], "variationId": 2985561 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1780213G>A?assembly=hg19", "id": "chr11:g.1780213G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1758983G>A?assembly=hg38", "id": "chr11:g.1758983G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1845841728", "rs": 1845841728 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1758983, "referenceAllele": "G", "start": 1758982 } ], "hgvs": [ "NC_000011.10:g.1758983G>A", "CM000673.2:g.1758983G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1780213, "referenceAllele": "G", "start": 1780212 } ], "hgvs": [ "NC_000011.9:g.1780213G>A", "CM000673.1:g.1780213G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1736789, "referenceAllele": "G", "start": 1736788 } ], "hgvs": [ "NC_000011.8:g.1736789G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 10010, "referenceAllele": "C", "start": 10009 } ], "hgvs": [ "NG_008655.1:g.10010C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001148" } ], "transcriptAlleles": [ { "coordinates": [ { 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"ENSP00000236671.2:p.Gln153_Leu412delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740984", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.457C>T" }, "RefSeq": { "hgvs": "NM_001909.5:c.457C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Gln153Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Gln153Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000367196.4:c.352C>T" ], "proteinEffect": { "hgvs": "ENSP00000356164.4:p.Gln118Ter", "hgvsWellDefined": "ENSP00000356164.4:p.Gln118_Leu377delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749955" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "C", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000429746.2:c.352C>T" ], "proteinEffect": { "hgvs": "ENSP00000402586.2:p.Gln118Ter", "hgvsWellDefined": "ENSP00000402586.2:p.Gln118_Leu377delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755290" }, { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.6:c.457C>T" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:p.Gln153Ter", "hgvsWellDefined": "ENSP00000404902.1:p.Gln153_Gln276delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755471" }, { "coordinates": [ { "allele": "T", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.6:c.457C>T" ], "proteinEffect": { "hgvs": "ENSP00000415036.2:p.Gln153Ter", "hgvsWellDefined": "ENSP00000415036.2:p.Gln153_Leu451delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnSerProGluGlyArgArgValGlnProSerGlnGlyArgGlySerGlnGlyGlyAlaLeuGlyProGlnGlyThrLeuGlnSerArgGlnGlyLeuHisAlaLeuThrProArgArgValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755690" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "hgvs": [ "ENST00000636397.1:c.457C>T" ], "proteinEffect": { "hgvs": "ENSP00000489910.1:p.Gln153Ter", "hgvsWellDefined": "ENSP00000489910.1:p.Gln153_Ser582delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysProArgLeuGluTrpProArgProAspValLeuHisGlnCysSerCysProAlaGlyTrpGlyArgArgGlnGlyMetGlnGlyGluLysArgLeuGlyArgGlyTrpLeuGlyGlyArgThrProGlyGlnLeuArgLeuCysSerIleLeuGluLeuGluProHisProAlaArgHisArgAsnCysGlyArgArgSerProProAlaProAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763082" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636571.1:c.436C>T" ], "proteinEffect": { "hgvs": "ENSP00000490770.1:p.Gln146Ter", "hgvsWellDefined": "ENSP00000490770.1:p.Gln146_Leu405delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763216" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "hgvs": [ "ENST00000636615.1:c.457C>T" ], "proteinEffect": { "hgvs": "ENSP00000490014.1:p.Gln153Ter", "hgvsWellDefined": "ENSP00000490014.1:p.Gln153_Tyr557delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysValArgAspLysLysLeuLeuAsnAspLeuAsnGlyAlaValGluAspAlaLysThrAlaArgLeuPheAsnIleThrSerSerAlaLeuAlaAlaSerCysIleIleLeuValPheIlePheLeuArgTyrProLeuThrAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763252" }, { "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "C", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636843.1:c.451C>T" ], "proteinEffect": { "hgvs": "ENSP00000490897.1:p.Gln151Ter", "hgvsWellDefined": "ENSP00000490897.1:p.Gln151_Leu410delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763422" }, { "coordinates": [ { "allele": "T", "end": 2885, "referenceAllele": "C", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637381.2:n.2885C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763824" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637387.1:c.457C>T" ], "proteinEffect": { "hgvs": "ENSP00000490598.1:p.Gln153Ter", "hgvsWellDefined": "ENSP00000490598.1:p.Gln153_Leu405delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763827" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637815.2:c.457C>T" ], "proteinEffect": { "hgvs": "ENSP00000490344.1:p.Gln153Ter", "hgvsWellDefined": "ENSP00000490344.1:p.Gln153_Leu406delinsAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764130" }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": 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