Canonical Allele Identifier: PA2825458423
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2646130
ClinVar RCV Id: RCV003426559

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Ser2302Arg
CA394550798
NM_001079846.1:c.6906T>G
CA394550799
NM_001079846.1:c.6906T>A
CA394550809
NM_001079846.1:c.6904A>C