Allele Registry

Canonical Allele Identifier: PA2825457938

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV002231255

RCV002316527

RCV002497075

RCV003403260

ClinVar Variation:

458204

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Ala1986Val	CA7869187 NM_001079846.1:c.5957C>T