Canonical Allele Identifier: PA2741909144
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2883249
ClinVar RCV Id: RCV003759599

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Leu1850Pro
CA394556040
NM_004380.3:c.5549T>C