Allele Registry

Canonical Allele Identifier: PA2829538247

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV004526370

ClinVar Variation:

3233520

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Leu2330Val	CA394550927 NM_004380.3:c.6988C>G