Allele Registry

Canonical Allele Identifier: PA248676

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000081061

RCV000145767

RCV000224624

RCV001085724

RCV002311611

RCV003982877

ClinVar Variation:

95056

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Ala1907Thr	CA248675 NM_004380.3:c.5719G>A