Canonical Allele Identifier: PA2573085686
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1313688
ClinVar RCV Id: RCV001764052

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Gln2370His
CA394550513
NM_004380.3:c.7110G>T
CA394550514
NM_004380.3:c.7110G>C