Canonical Allele Identifier: PA2825457583
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 869444
ClinVar RCV Id: RCV001089539

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Cys1691Ser
CA394557784
NM_001079846.1:c.5072G>C
CA394557792
NM_001079846.1:c.5071T>A