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"XP_024308681.1:p.Trp53_Leu160delinsTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586300" }, { "@id": "http://reg.genome.network/allele/PA342972", "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN007224", "geneNCBI_id": 4358, "geneSymbol": "MPV17", "hgvs": [ "NM_002437.5:c.207G>A" ], "proteinEffect": { "hgvs": "NP_002428.1:p.Trp69Ter", "hgvsWellDefined": "NP_002428.1:p.Trp69_Leu176delinsTyrLysValLeuAspArgPheIleProGlyThrThrLysValAspAlaLeuLysLysMetLeuLeuAspGlnGlyGlyPheAlaProCysPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665525", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380044.6:c.207G>A" }, "RefSeq": { "hgvs": "NM_002437.5:c.207G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369383.1:p.Trp69Ter" }, "RefSeq": { "hgvs": "NP_002428.1:p.Trp69Ter" } } } } ], "type": "nucleotide" }