{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404244415", "communityStandardTitle": [ "NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=647699[alleleid]", "alleleId": 647699, "preferredName": "NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/658737", "RCV": [ "RCV000815618" ], "variationId": 658737 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12763177C>T?assembly=hg19", "id": "chr19:g.12763177C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12652363C>T?assembly=hg38", "id": "chr19:g.12652363C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1599344532", "rs": 1599344532 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12652363, "referenceAllele": "C", "start": 12652362 } ], "hgvs": [ "NC_000019.10:g.12652363C>T", "CM000681.2:g.12652363C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12763177, "referenceAllele": "C", "start": 12763176 } ], "hgvs": [ "NC_000019.9:g.12763177C>T", "CM000681.1:g.12763177C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12624177, "referenceAllele": "C", "start": 12624176 } ], "hgvs": [ "NC_000019.8:g.12624177C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 19415, "referenceAllele": "G", "start": 19414 } ], "hgvs": [ "NG_008318.1:g.19415G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001025" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1969, "referenceAllele": "G", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000456935.7:c.1928G>A" ], "proteinEffect": { "hgvs": "ENSP00000395473.2:p.Trp643Ter", "hgvsWellDefined": "ENSP00000395473.2:p.Trp643_Gly1011delinsTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756575", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456935.7:c.1928G>A" }, "RefSeq": { "hgvs": "NM_000528.4:c.1928G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395473.2:p.Trp643Ter" }, "RefSeq": { "hgvs": "NP_000519.2:p.Trp643Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1958, "referenceAllele": "G", "start": 1957 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000221363.8:c.1925G>A" ], "proteinEffect": { "hgvs": "ENSP00000221363.4:p.Trp642Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS248273" }, { "coordinates": [ { "allele": "A", "end": 534, "referenceAllele": "G", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000433513.5:n.534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS292580" }, { "coordinates": [ { "allele": "A", "end": 1969, "referenceAllele": "G", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000456935.6:c.1928G>A" ], "proteinEffect": { "hgvs": "ENSP00000395473.2:p.Trp643Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS303709" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000466794.5:n.2518G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310063" }, { "coordinates": [ { "allele": "A", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000593686.1:c.521G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS394306" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000595880.5:n.525G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395280" }, { "coordinates": [ { "allele": "A", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000596591.1:c.261G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395589" }, { "@id": "http://reg.genome.network/allele/PA221082", "coordinates": [ { "allele": "A", "end": 2004, "referenceAllele": "G", "start": 2003 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "NM_000528.3:c.1928G>A" ], "proteinEffect": { "hgvs": "NP_000519.2:p.Trp643Ter", "hgvsWellDefined": "NP_000519.2:p.Trp643_Gly1011delinsTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006585" }, { "@id": "http://reg.genome.network/allele/PA2826093445", "coordinates": [ { "allele": "A", "end": 2001, "referenceAllele": "G", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "NM_001173498.1:c.1925G>A" ], "proteinEffect": { "hgvs": "NP_001166969.1:p.Trp642Ter", "hgvsWellDefined": "NP_001166969.1:p.Trp642_Gly1010delinsTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015607" }, { "coordinates": [ { "allele": "A", "end": 1985, "referenceAllele": "G", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "XM_005259913.1:c.1931G>A" ], "proteinEffect": { "hgvs": "XP_005259970.1:p.Trp644Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS062591" }, { "coordinates": [ { "allele": "A", "end": 986, "referenceAllele": "G", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "XM_011528017.1:c.827G>A" ], "proteinEffect": { "hgvs": "XP_011526319.1:p.Trp276Ter", "hgvsWellDefined": "XP_011526319.1:p.Trp276_Gly644delinsTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095096" }, { "coordinates": [ { "allele": "A", "end": 1972, "referenceAllele": "G", "start": 1971 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "XM_005259913.2:c.1931G>A" ], "proteinEffect": { "hgvs": "XP_005259970.1:p.Trp644Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS535086" }, { "coordinates": [ { "allele": "A", "end": 1870, "referenceAllele": "G", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "XM_024451518.1:c.827G>A" ], "proteinEffect": { "hgvs": "XP_024307286.1:p.Trp276Ter", "hgvsWellDefined": "XP_024307286.1:p.Trp276_Gly644delinsTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585031" }, { "@id": "http://reg.genome.network/allele/PA221082", "coordinates": [ { "allele": "A", "end": 1969, "referenceAllele": "G", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "NM_000528.4:c.1928G>A" ], "proteinEffect": { "hgvs": "NP_000519.2:p.Trp643Ter", "hgvsWellDefined": "NP_000519.2:p.Trp643_Gly1011delinsTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662473", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456935.7:c.1928G>A" }, "RefSeq": { "hgvs": "NM_000528.4:c.1928G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395473.2:p.Trp643Ter" }, "RefSeq": { "hgvs": "NP_000519.2:p.Trp643Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826093445", "coordinates": [ { "allele": "A", "end": 1966, "referenceAllele": "G", "start": 1965 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "NM_001173498.2:c.1925G>A" ], "proteinEffect": { "hgvs": "NP_001166969.1:p.Trp642Ter", "hgvsWellDefined": "NP_001166969.1:p.Trp642_Gly1010delinsTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713478" } ], "type": "nucleotide" }