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}, "referenceSequence": "http://reg.genome.network/refseq/RS698949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258781.11:c.643C>T" }, "RefSeq": { "hgvs": "NM_031443.4:c.643C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258781.7:p.Gln215Ter" }, "RefSeq": { "hgvs": "NP_113631.1:p.Gln215Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NR_030770.2:n.725C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702076" }, { "@id": "http://reg.genome.network/allele/PA2826050894", "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167934.2:c.469C>T" ], "proteinEffect": { "hgvs": "NP_001161406.1:p.Gln157Ter", "hgvsWellDefined": "NP_001161406.1:p.Gln157_Ala386delinsValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713260" }, { "coordinates": [ { "allele": "T", "end": 605, "endIntronDirection": "-", "endIntronOffset": 2866, "referenceAllele": "C", "start": 605, "startIntronDirection": "-", "startIntronOffset": 2867 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167935.2:c.473-2867C>T" ], "proteinEffect": { "hgvs": "NP_001161407.1:n.473-2867C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713261" } ], "type": "nucleotide" }