{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2836220", "communityStandardTitle": [ "NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543577[alleleid]", "alleleId": 543577, "preferredName": "NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553266", "RCV": [ "RCV000668673", "RCV001047674" ], "variationId": 553266 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-5785393-G-T", "id": "4-5785393-G-T", "variant": "4:5785393 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5785393G>T?assembly=hg19", "id": "chr4:g.5785393G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5783666G>T?assembly=hg38", "id": "chr4:g.5783666G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764397417", "rs": 764397417 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5785393-G-T?dataset=gnomad_r2_1", "id": "4-5785393-G-T", "variant": "4:5785393 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5783666-G-T?dataset=gnomad_r4", "id": "4-5783666-G-T", "variant": "4:5783666 G / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5783666, "referenceAllele": "G", "start": 5783665 } ], "hgvs": [ "NC_000004.12:g.5783666G>T", "CM000666.2:g.5783666G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5785393, "referenceAllele": "G", "start": 5785392 } ], "hgvs": [ "NC_000004.11:g.5785393G>T", "CM000666.1:g.5785393G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", 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"ENSP00000264956.6:p.Glu560_Leu992delinsValGlnGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" 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