Canonical Allele Identifier: PA2825457413
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1992379
ClinVar RCV Id: RCV002795928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Leu1518Val
CA394562301
NM_001079846.1:c.4552C>G