Allele Registry

Canonical Allele Identifier: PA2825457274

Gene: CREBBP HGNC NCBI

ClinVar Allele:

208265

ClinVar RCV:

RCV000195137

ClinVar Variation:

210780

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Arg1389Ser	CA277444 NM_001079846.1:c.4167G>T CA394564646 NM_001079846.1:c.4167G>C