Canonical Allele Identifier: PA2825457667
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2499697
ClinVar RCV Id: RCV003223789

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.His1810Gln
CA394556053
NM_001079846.1:c.5430C>G
CA394556054
NM_001079846.1:c.5430C>A