Allele Registry

Canonical Allele Identifier: PA2825457104

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000010040

RCV000255660

RCV001260694

RCV001267080

RCV001813970

RCV002496320

ClinVar Variation:

9433

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Glu1240Lys	CA254815 NM_001079846.1:c.3718G>A