Canonical Allele Identifier: PA2741909137
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2813142
ClinVar RCV Id: RCV003760843

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Gly1814Arg
CA394556384
NM_004380.3:c.5440G>C
CA394556386
NM_004380.3:c.5440G>A