{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA118389", "communityStandardTitle": [ "NM_005677.4(COLQ):c.640G>T (p.Glu214Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21688[alleleid]", "alleleId": 21688, "preferredName": "NM_005677.4(COLQ):c.640G>T (p.Glu214Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6649", "RCV": [ "RCV000007028" ], "variationId": 6649 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-15512120-C-A", "id": "3-15512120-C-A", "variant": "3:15512120 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.15512120C>A?assembly=hg19", "id": "chr3:g.15512120C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.15470613C>A?assembly=hg38", "id": "chr3:g.15470613C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104893733", "rs": 104893733 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-15512120-C-A?dataset=gnomad_r2_1", "id": "3-15512120-C-A", "variant": "3:15512120 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-15470613-C-A?dataset=gnomad_r3", "id": "3-15470613-C-A", "variant": "3:15470613 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-15470613-C-A?dataset=gnomad_r4", "id": "3-15470613-C-A", "variant": "3:15470613 C / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15470613, "referenceAllele": "C", "start": 15470612 } ], "hgvs": [ "NC_000003.12:g.15470613C>A", "CM000665.2:g.15470613C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15512120, "referenceAllele": "C", "start": 15512119 } ], "hgvs": [ "NC_000003.11:g.15512120C>A", "CM000665.1:g.15512120C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 15487124, "referenceAllele": "C", "start": 15487123 } ], "hgvs": [ "NC_000003.10:g.15487124C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 56139, "referenceAllele": "G", "start": 56138 } ], "hgvs": [ "NG_009032.1:g.56139G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001392" }, { "coordinates": [ { "allele": "T", "end": 56139, "referenceAllele": "G", "start": 56138 } ], "hgvs": [ "NG_009032.2:g.56139G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673516" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000383788.10:c.640G>T" ], "proteinEffect": { "hgvs": "ENSP00000373298.3:p.Glu214Ter", "hgvsWellDefined": "ENSP00000373298.3:p.Glu214_Thr455delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752731", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000383788.10:c.640G>T" }, "RefSeq": { "hgvs": "NM_005677.4:c.640G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373298.3:p.Glu214Ter" }, "RefSeq": { "hgvs": "NP_005668.2:p.Glu214Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 636, "referenceAllele": "G", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000604401.2:n.636G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS761610" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "G", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000679838.1:c.*402G>T" ], "proteinEffect": { "hgvs": "ENSP00000505708.1:n.*402G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779460" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "G", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000680545.1:n.406G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780161" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "G", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000681097.1:c.640G>T" ], "proteinEffect": { "hgvs": "ENSP00000505397.1:p.Glu214Ter", "hgvsWellDefined": "ENSP00000505397.1:p.Glu214_Ala281delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaAspPheCysGlyGlnGlnProGlyGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780709" }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000383781.8:c.610G>T" ], "proteinEffect": { "hgvs": "ENSP00000373291.3:p.Glu204Ter", "hgvsWellDefined": "ENSP00000373291.3:p.Glu204_Thr445delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274030" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000383786.9:c.538G>T" ], "proteinEffect": { "hgvs": "ENSP00000373296.3:p.Glu180Ter", "hgvsWellDefined": "ENSP00000373296.3:p.Glu180_Thr421delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274031" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "G", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000383788.9:c.640G>T" ], "proteinEffect": { "hgvs": "ENSP00000373298.3:p.Glu214Ter", "hgvsWellDefined": "ENSP00000373298.3:p.Glu214_Thr455delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274032" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "G", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000603808.5:c.640G>T" ], "proteinEffect": { "hgvs": "ENSP00000474271.1:p.Glu214Ter", "hgvsWellDefined": "ENSP00000474271.1:p.Glu214_Thr456delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgAspCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS398772" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "G", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "ENST00000605797.1:c.469G>T" ], "proteinEffect": { "hgvs": "ENSP00000474936.1:p.Glu157Ter", "hgvsWellDefined": "ENSP00000474936.1:p.Glu157_Pro194del" }, "referenceSequence": "http://reg.genome.network/refseq/RS399581" }, { "@id": "http://reg.genome.network/allele/PA118390", "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "G", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "NM_005677.3:c.640G>T" ], "proteinEffect": { "hgvs": "NP_005668.2:p.Glu214Ter", "hgvsWellDefined": "NP_005668.2:p.Glu214_Thr455delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030761" }, { "@id": "http://reg.genome.network/allele/PA2830156606", "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "NM_080538.2:c.610G>T" ], "proteinEffect": { "hgvs": "NP_536799.1:p.Glu204Ter", "hgvsWellDefined": "NP_536799.1:p.Glu204_Thr445delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040165" }, { "@id": "http://reg.genome.network/allele/PA2830156821", "coordinates": [ { "allele": "T", "end": 664, "referenceAllele": "G", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "NM_080539.3:c.538G>T" ], "proteinEffect": { "hgvs": "NP_536800.2:p.Glu180Ter", "hgvsWellDefined": "NP_536800.2:p.Glu180_Thr421delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040166" }, { "@id": "http://reg.genome.network/allele/PA118390", "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "NM_005677.4:c.640G>T" ], "proteinEffect": { "hgvs": "NP_005668.2:p.Glu214Ter", "hgvsWellDefined": "NP_005668.2:p.Glu214_Thr455delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667090", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000383788.10:c.640G>T" }, "RefSeq": { "hgvs": "NM_005677.4:c.640G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373298.3:p.Glu214Ter" }, "RefSeq": { "hgvs": "NP_005668.2:p.Glu214Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830156821", "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN002226", "geneNCBI_id": 8292, "geneSymbol": "COLQ", "hgvs": [ "NM_080539.4:c.538G>T" ], "proteinEffect": { "hgvs": "NP_536800.2:p.Glu180Ter", "hgvsWellDefined": "NP_536800.2:p.Glu180_Thr421delinsMetGlyProLysGlyGluProGlyIleAlaGlyHisArgGlyProThrGlyArgProGlyLysArgGlyLysGlnGlyGlnLysGlyAspSerGlyValMetGlyProProGlyLysProGlyProSerGlyGlnProGlyArgProGlyProProGlyProProProAlaGlyGlnLeuIleMetGlyProLysGlyGluArgGlyPheProGlyProProGlyArgCysLeuCysGlyProThrMetAsnValAsnAsnProSerTyrGlyGluSerValTyrGlyProSerSerProArgValProValIlePheValValAsnAsnGlnGluGluLeuGluArgLeuAsnThrGlnAsnAlaIleAlaPheArgArgAspGlnArgSerLeuTyrPheLysAspSerLeuGlyTrpLeuProIleGlnLeuThrProPheTyrProValAspTyrThrAlaAspGlnHisGlyThrCysGlyAspGlyLeuLeuGlnProGlyGluGluCysAspAspGlyAsnSerAspValGlyAspAspCysIleArgCysHisArgAlaTyrCysGlyAspGlyHisArgHisGluGlyValGluAspCysAspGlySerAspPheGlyTyrLeuThrCysGluThrTyrLeuProGlySerTyrGlyAspLeuGlnCysThrGlnTyrCysTyrIleAspSerThrProCysArgTyrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699512" } ], "type": "nucleotide" }