Allele Registry

Canonical Allele Identifier: PA658682004

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV002231255

RCV002316527

RCV002497075

RCV003403260

ClinVar Variation:

458204

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Ala2024Val	CA7869187 NM_004380.3:c.6071C>T