This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CREBBP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000371502.3:p.[Val377del;Ala379_Leu382delinsPheGly;His384_Cys385delinsAla;Thr387_Asn390delinsSerArgIle;Leu392_Ala406delinsGluPro]
CA915949051
ENST00000382070.7:c.1127_1128dup