Allele Registry

Canonical Allele Identifier: PA271390

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000145737

RCV002228523

RCV003895028

ClinVar Variation:

158357

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Tyr1167Cys	CA271389 NM_004380.3:c.3500A>G