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"http://reg.genome.network/refseq/RS100690" }, { "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533667.2:c.390G>A" ], "proteinEffect": { "hgvs": "XP_011531969.1:p.Trp130Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS551333" }, { "coordinates": [ { "allele": "A", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533669.2:c.390G>A" ], "proteinEffect": { "hgvs": "XP_011531971.1:p.Trp130Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS671514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395144.7:c.390G>A" }, "RefSeq": { "hgvs": "NM_033159.4:c.390G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378576.2:p.Trp130Ter" }, "RefSeq": { "hgvs": "NP_149349.2:p.Trp130Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580529019", "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153282.3:c.390G>A" ], "proteinEffect": { "hgvs": "NP_695014.1:p.Trp130Ter", "hgvsWellDefined": 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"referenceAllele": "G", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153283.3:c.-157G>A" ], "proteinEffect": { "hgvs": "NP_695015.1:n.-157G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS700338" }, { "coordinates": [ { "allele": "A", "end": 109, "endIntronDirection": "-", "endIntronOffset": 361, "referenceAllele": "G", "start": 109, "startIntronDirection": "-", "startIntronOffset": 362 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153285.3:c.-26-362G>A" ], "proteinEffect": { "hgvs": "NP_695017.1:n.-26-362G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS700339" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NR_047690.2:n.1008G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702541" }, { "@id": "http://reg.genome.network/allele/PA2830321174", "coordinates": [ { "allele": "A", "end": 817, "referenceAllele": "G", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153281.2:c.390G>A" ], "proteinEffect": { "hgvs": "NP_695013.1:p.Trp130Ter", "hgvsWellDefined": "NP_695013.1:p.Trp130_Trp435delinsGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729464" } ], "type": "nucleotide" }