Allele Registry

Canonical Allele Identifier: PA094225

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000010037

ClinVar Variation:

9430

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Arg1378Pro	CA254813 NM_004380.3:c.4133G>C