Canonical Allele Identifier: PA2580308061
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2118250
ClinVar RCV Id: RCV003030383

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Ala2336Thr
CA276971136
NM_004380.3:c.7006G>A