Canonical Allele Identifier: PA2825458449
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1313688
ClinVar RCV Id: RCV001764052

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Gln2332His
CA394550513
NM_001079846.1:c.6996G>T
CA394550514
NM_001079846.1:c.6996G>C