Allele Registry

Canonical Allele Identifier: PA645398365

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000443507

RCV004022526

ClinVar Variation:

393129

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Cys1775Arg	CA16607414 NM_004380.3:c.5323T>C