{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA317064", "communityStandardTitle": [ "NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201795[alleleid]", "alleleId": 201795, "preferredName": "NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206709", "RCV": [ "RCV000188795", "RCV000258860", "RCV000698181" ], "variationId": 206709 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-77102169-G-A", "id": "4-77102169-G-A", "variant": "4:77102169 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.77102169G>A?assembly=hg19", "id": "chr4:g.77102169G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.76181016G>A?assembly=hg38", "id": "chr4:g.76181016G>A" } ], "dbSNP": [ { "@id": 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"ENSP00000492246.1:p.Arg121_Gly449delinsAspGlnSerValGlyAspProLysIleAspLeuIleArgThrLeuAsnIleProValLeuThrValIleGluTrpSerGlnValHisPheLeuArgGluIleIleGluAlaMetLeuLysAlaTyrGlnGlnLysLeuPheValThrHisThrValAspGluLeuLeuTrpGlyTyrLysAspGluIleLeuSerLeuIleHisValPheArgProAspIleSerProTyrPheGlyLeuPheTyrGluLysAsnGlyThrAsnAspGlyAspTyrValPheLeuThrGlyGluAspSerTyrLeuAsnPheThrLysIleValGluTrpAsnGlyLysThrSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyAsnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765597" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000640916.1:n.289C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS765731" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN001665", "geneNCBI_id": 950, "geneSymbol": "SCARB2", "hgvs": [ "ENST00000640957.1:c.361C>T" ], "proteinEffect": { "hgvs": "ENSP00000492004.1:p.Arg121Ter", "hgvsWellDefined": 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"ENSP00000264896.2:p.Arg121_Thr478delinsAspGlnSerValGlyAspProLysIleAspLeuIleArgThrLeuAsnIleProValLeuThrValIleGluTrpSerGlnValHisPheLeuArgGluIleIleGluAlaMetLeuLysAlaTyrGlnGlnLysLeuPheValThrHisThrValAspGluLeuLeuTrpGlyTyrLysAspGluIleLeuSerLeuIleHisValPheArgProAspIleSerProTyrPheGlyLeuPheTyrGluLysAsnGlyThrAsnAspGlyAspTyrValPheLeuThrGlyGluAspSerTyrLeuAsnPheThrLysIleValGluTrpAsnGlyLysThrSerLeuAspTrpTrpIleThrAspLysCysAsnMetIleAsnGlyThrAspGlyAspSerPheHisProLeuIleThrLysAspGluValLeuTyrValPheProSerAspPheCysArgSerValTyrIleThrPheSerAspTyrGluSerValGlnGlyLeuProAlaPheArgTyrLysValProAlaGluIleLeuAlaAsnThrSerAspAsnAlaGlyPheCysIleProGluGlyAsnCysLeuGlySerGlyValLeuAsnValSerIleCysLysAsnGlyAlaProIleIleMetSerPheProHisPheTyrGlnAlaAspGluArgPheValSerAlaIleGluGlyMetHisProAsnGlnGluAspHisGluThrPheValAspIleAsnProLeuThrGlyIleIleLeuLysAlaAlaLysArgPheGlnIleAsnIleTyrValLysLysLeuAspAspPheValGluThrGlyAspIleArgThrMetValPheProValMetTyrLeuAsnGluSerValHisIleAspLysGluThrAlaSerArgLeuLysSerMetIleAsnThrThrLeuIleIleThrAsnIleProTyrIleIleMetAlaLeuGlyValPhePheGlyLeuValPheThrTrpLeuAlaCysLysGlyGlnGlySerMetAspGluGlyThrAlaAspGluArgAlaProLeuIleArgThrTer" 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