Allele Registry

Canonical Allele Identifier: PA2825456994

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000145737

RCV002228523

RCV003895028

ClinVar Variation:

158357

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Tyr1129Cys	CA271389 NM_001079846.1:c.3386A>G