Allele Registry

Canonical Allele Identifier: PA243770

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000145768

RCV000177560

RCV001087896

RCV002221200

RCV002354332

RCV003935243

ClinVar Variation:

158387

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Ser1934Pro	CA243769 NM_004380.3:c.5800T>C