Canonical Allele Identifier: PA2825458442
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2504347
ClinVar RCV Id: RCV003231808
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Ser2323Cys
CA394550570
NM_001079846.1:c.6968C>G