{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA357327854", "communityStandardTitle": [ "NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2148084[alleleid]", "alleleId": 2148084, "preferredName": "NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2088984", "RCV": [ "RCV003011917" ], "variationId": 2088984 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.77134609G>A?assembly=hg19", "id": "chr4:g.77134609G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.76213456G>A?assembly=hg38", "id": "chr4:g.76213456G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2476318271", "rs": 2476318271 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 76213456, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764641" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000638680.1:n.421C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764647" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000639145.1:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000492831.1:p.Gln30Ter", "hgvsWellDefined": 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"ENSP00000492246.1:p.Gln30_Gly449delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgGluLeuArgAsnLysAlaAsnIleGlnPheGlyAspAsnGlyThrThrIleSerAlaValSerAsnLysAlaTyrValPheGluArgAspGlnSerValGlyAspProLysIleAspLeuIleArgThrLeuAsnIleProValLeuThrValIleGluTrpSerGlnValHisPheLeuArgGluIleIleGluAlaMetLeuLysAlaTyrGlnGlnLysLeuPheValThrHisThrValAspGluLeuLeuTrpGlyTyrLysAspGluIleLeuSerLeuIleHisValPheArgProAspIleSerProTyrPheGlyLeuPheTyrGluLysAsnGlyThrAsnAspGlyAspTyrValPheLeuThrGlyGluAspSerTyrLeuAsnPheThrLysIleValGluTrpAsnGlyLysThrSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyAsnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765597" }, { "coordinates": [ { "allele": "T", "end": 16, "referenceAllele": "C", "start": 15 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000640916.1:n.16C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765731" }, { "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000640957.1:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000492004.1:p.Gln30Ter", "hgvsWellDefined": "ENSP00000492004.1:p.Gln30_Gly470delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgGluLeuArgAsnLysAlaAsnIleGlnPheGlyAspAsnGlyThrThrIleSerAlaValSerAsnLysAlaTyrValPheGluArgAspGlnSerValGlyAspProLysIleAspLeuIleArgThrLeuAsnIleProValLeuThrValIleGluTrpSerGlnValHisPheLeuArgGluIleIleGluAlaMetLeuLysAlaTyrGlnGlnLysLeuPheValThrHisThrValAspGluLeuLeuTrpGlyTyrLysAspGluIleLeuSerLeuIleHisValPheArgProAspIleSerProTyrPheGlyLeuPheTyrGluLysAsnGlyThrAsnAspGlyAspTyrValPheLeuThrGlyGluAspSerTyrLeuAsnPheThrLysIleValGluTrpAsnGlyLysThrSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluValArgThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765747" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000264896.6:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000264896.2:p.Gln30Ter", "hgvsWellDefined": "ENSP00000264896.2:p.Gln30_Thr478delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgGluLeuArgAsnLysAlaAsnIleGlnPheGlyAspAsnGlyThrThrIleSerAlaValSerAsnLysAlaTyrValPheGluArgAspGlnSerValGlyAspProLysIleAspLeuIleArgThrLeuAsnIleProValLeuThrValIleGluTrpSerGlnValHisPheLeuArgGluIleIleGluAlaMetLeuLysAlaTyrGlnGlnLysLeuPheValThrHisThrValAspGluLeuLeuTrpGlyTyrLysAspGluIleLeuSerLeuIleHisValPheArgProAspIleSerProTyrPheGlyLeuPheTyrGluLysAsnGlyThrAsnAspGlyAspTyrValPheLeuThrGlyGluAspSerTyrLeuAsnPheThrLysIleValGluTrpAsnGlyLysThrSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251615" }, { "coordinates": [ { "allele": "T", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000452464.6:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000399154.2:p.Gln30Ter", "hgvsWellDefined": "ENSP00000399154.2:p.Gln30_Thr335delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301640" }, { "coordinates": [ { "allele": "T", "end": 145, "referenceAllele": "C", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000509994.1:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000420988.1:p.Gln30Ter", "hgvsWellDefined": "ENSP00000420988.1:p.Gln30_Ala106delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgAspLysValLeuLeuCysCysSerCysTrpAsnAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340624" }, { "@id": "http://reg.genome.network/allele/PA2826268676", "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "NM_001204255.1:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001191184.1:p.Gln30Ter", "hgvsWellDefined": "NP_001191184.1:p.Gln30_Thr335delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017576" }, { "@id": "http://reg.genome.network/allele/PA2580331516", "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "NM_005506.3:c.88C>T" ], "proteinEffect": { "hgvs": "NP_005497.1:p.Gln30Ter", "hgvsWellDefined": "NP_005497.1:p.Gln30_Thr478delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgGluLeuArgAsnLysAlaAsnIleGlnPheGlyAspAsnGlyThrThrIleSerAlaValSerAsnLysAlaTyrValPheGluArgAspGlnSerValGlyAspProLysIleAspLeuIleArgThrLeuAsnIleProValLeuThrValIleGluTrpSerGlnValHisPheLeuArgGluIleIleGluAlaMetLeuLysAlaTyrGlnGlnLysLeuPheValThrHisThrValAspGluLeuLeuTrpGlyTyrLysAspGluIleLeuSerLeuIleHisValPheArgProAspIleSerProTyrPheGlyLeuPheTyrGluLysAsnGlyThrAsnAspGlyAspTyrValPheLeuThrGlyGluAspSerTyrLeuAsnPheThrLysIleValGluTrpAsnGlyLysThrSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030597" }, { "@id": "http://reg.genome.network/allele/PA2580331516", "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "NM_005506.4:c.88C>T" ], "proteinEffect": { "hgvs": "NP_005497.1:p.Gln30Ter", "hgvsWellDefined": "NP_005497.1:p.Gln30_Thr478delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgGluLeuArgAsnLysAlaAsnIleGlnPheGlyAspAsnGlyThrThrIleSerAlaValSerAsnLysAlaTyrValPheGluArgAspGlnSerValGlyAspProLysIleAspLeuIleArgThrLeuAsnIleProValLeuThrValIleGluTrpSerGlnValHisPheLeuArgGluIleIleGluAlaMetLeuLysAlaTyrGlnGlnLysLeuPheValThrHisThrValAspGluLeuLeuTrpGlyTyrLysAspGluIleLeuSerLeuIleHisValPheArgProAspIleSerProTyrPheGlyLeuPheTyrGluLysAsnGlyThrAsnAspGlyAspTyrValPheLeuThrGlyGluAspSerTyrLeuAsnPheThrLysIleValGluTrpAsnGlyLysThrSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667001", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264896.8:c.88C>T" }, "RefSeq": { "hgvs": "NM_005506.4:c.88C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264896.2:p.Gln30Ter" }, "RefSeq": { "hgvs": "NP_005497.1:p.Gln30Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826268676", "coordinates": [ { "allele": "T", "end": 369, "referenceAllele": "C", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "NM_001204255.2:c.88C>T" ], "proteinEffect": { "hgvs": "NP_001191184.1:p.Gln30Ter", "hgvsWellDefined": "NP_001191184.1:p.Gln30_Thr335delinsLysAlaValAspGlnSerIleGluLysLysIleValLeuArgAsnGlyThrGluAlaPheAspSerTrpGluLysProProLeuProValTyrThrGlnPheTyrPhePheAsnValThrAsnProGluGluIleLeuArgGlyGluThrProArgValGluGluValGlyProTyrThrTyrArgSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679803" } ], "type": "nucleotide" }