Allele Registry

Canonical Allele Identifier: PA2825457552

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000486926

ClinVar Variation:

421366

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Cys1669Ser	CA16620203 NM_001079846.1:c.5006G>C CA394558212 NM_001079846.1:c.5005T>A