{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2836221", "communityStandardTitle": [ "NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=453537[alleleid]", "alleleId": 453537, "preferredName": "NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/455999", "RCV": [ "RCV001383173", "RCV001811028" ], "variationId": 455999 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-5785399-C-T", "id": "4-5785399-C-T", "variant": "4:5785399 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5785399C>T?assembly=hg19", "id": "chr4:g.5785399C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5783672C>T?assembly=hg38", "id": "chr4:g.5783672C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/751772225", "rs": 751772225 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5785399-C-T?dataset=gnomad_r2_1", "id": "4-5785399-C-T", "variant": "4:5785399 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5783672-C-T?dataset=gnomad_r4", "id": "4-5783672-C-T", "variant": "4:5783672 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5783672, "referenceAllele": "C", "start": 5783671 } ], "hgvs": [ "NC_000004.12:g.5783672C>T", "CM000666.2:g.5783672C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5785399, "referenceAllele": "C", "start": 5785398 } ], "hgvs": [ "NC_000004.11:g.5785399C>T", "CM000666.1:g.5785399C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", 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"ENSP00000264956.6:p.Gln562_Leu992delinsGluAsnAlaAlaTrpGlnLeuGlyLysSerAsnArgPheArgArgGlnGlnTrpLysLeuPheGlnGluLeuLeuGluGlnAspGlnGlnValTrpMetGluGluCysAlaLeuSerSerValLeuGlnThrHisLeuArgGluAspHisGluGlyThrIleArgGlyValLeuGlyArgLeuGlyGlyLeuThrGluGluSerThrArgCysValLeuGlnGlyHisAspLeuLeuLeuArgSerAlaLeuArgArgLeuAlaLeuArgGlyAsnAlaLeuAlaThrLeuThrGlnMetArgLeuSerGlyLysLysHisLeuLeuGlnGluLeuArgGluGlnArgAlaLeuGluGlnGlySerSerGlnCysLeuAspGluHisGlnTrpGlnLeuLeuArgAlaLeuGluAlaArgValLeuGluGluAlaSerArgLeuGluGluGluAlaGlnGlnThrArgLeuGlnLeuGlnGlnArgLeuLeuAlaGluAlaGlnGluValGlyGlnLeuLeuGlnGlnHisMetGluCysAlaIleGlyGlnAlaLeuLeuValHisAlaArgAsnAlaAlaThrLysSerArgAlaLysAspArgAspAspPheLysArgThrLeuMetGluAlaAlaValGluSerValTyrValThrSerAlaGlyValSerArgLeuValGlnAlaTyrTyrGlnGlnIleGlyArgIleMetGluAspHisGluGluArgLysLeuGlnHisLeuLysThrLeuGlnGlyGluArgMetGluAsnTyrLysLeuArgLysLysGlnGluLeuSerAsnProSerSerGlySerArgThrAlaGlyGlyAlaHisGluThrSerGlnAlaValHisGlnArgMetLeuSerGlnGlnLysArgPheLeuAlaGlnPheProValHisGlnGlnMetArgLeuHisAlaGlnGlnGlnGlnAlaGlyValMetAspLeuLeuGluAlaGlnLeuGluThrGlnLeuGlnGluAlaGluGlnAsnPheIleSerGluLeuAlaAlaLeuAlaArgValProLeuAlaGluSerLysLeuLeuProAlaLysArgGlyLeuLeuGluLysProLeuArgThrLysArgLysLysProLeuProGlnGluArgGlyAspLeuGlyValProAsnAsnGluAspLeuAlaSerGlyAspGlnThrSerGlySerLeuSerSerLysArgLeuSerGlnGlnGluSerGluAlaGlyAspSerGlyAsnSerLysLysMetLeuLysArgArgSerAsnLeuTer" 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