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Canonical Allele Identifier: Get Identifier
Gene: CREBBP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000371502.3:p.[Pro2327_Gln2330delinsHisGlyTyrSer;Gln2332_Pro2335delinsSerLeuArg;His2337_Val2338delinsThrThr;Ser2339_Pro2340insHis;Gln2341_Ser2344delinsArgLeuValPro;His2346Thr;Gly2348_Ser2356delinsAspSerGlnSerProTrpProAlaPro]
CA2731844847
ENST00000382070.7:c.6980del