Canonical Allele Identifier: PA2741909394
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2863456
ClinVar RCV Id: RCV003759337

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Ser2422Arg
CA394550181
NM_004380.3:c.7266C>G
CA394550182
NM_004380.3:c.7266C>A
CA394550187
NM_004380.3:c.7264A>C