Canonical Allele Identifier: PA2580307902
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2499697
ClinVar RCV Id: RCV003223789

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.His1848Gln
CA394556053
NM_004380.3:c.5544C>G
CA394556054
NM_004380.3:c.5544C>A