Canonical Allele Identifier: PA2825458469
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 587495
ClinVar RCV Id: RCV002369985 RCV000714678
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Ala2350Thr
CA7868942
NM_001079846.1:c.7048G>A