Allele Registry

Canonical Allele Identifier: PA2825457615

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000443507

RCV004022526

ClinVar Variation:

393129

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Cys1737Arg	CA16607414 NM_001079846.1:c.5209T>C