Allele Registry

Canonical Allele Identifier: PA271366

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000145718

RCV002478406

RCV003764886

ClinVar Variation:

158340

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Asn55Ser	CA271365 NM_004380.3:c.164A>G