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"NP_149349.2:p.Gln259_Trp435delinsMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395144.7:c.775C>T" }, "RefSeq": { "hgvs": "NM_033159.4:c.775C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378576.2:p.Gln259Ter" }, "RefSeq": { "hgvs": "NP_149349.2:p.Gln259Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830321787", 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"geneSymbol": "HYAL1", "hgvs": [ "NM_153285.3:c.-3C>T" ], "proteinEffect": { "hgvs": "NP_695017.1:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS700339" }, { "coordinates": [ { "allele": "T", "end": 1393, "referenceAllele": "C", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NR_047690.2:n.1393C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702541" }, { "@id": "http://reg.genome.network/allele/PA2830321315", "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153281.2:c.775C>T" ], "proteinEffect": { "hgvs": "NP_695013.1:p.Gln259Ter", "hgvsWellDefined": 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