Allele Registry

Canonical Allele Identifier: PA094277

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000010040

RCV000255660

RCV001260694

RCV001267080

RCV001813970

RCV002496320

ClinVar Variation:

9433

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Glu1278Lys	CA254815 NM_004380.3:c.3832G>A