Allele Registry

Canonical Allele Identifier: PA658818055

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000623665

RCV001027717

RCV003231542

ClinVar Variation:

521543

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Asn1789Ser	CA394557043 NM_004380.3:c.5366A>G