Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Gln2057His	CA394553977 NM_004380.3:c.6171G>T CA394553978 NM_004380.3:c.6171G>C