Canonical Allele Identifier: PA2825456031
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2243842
ClinVar RCV Id: RCV002757346
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Pro287Leu
CA394566080
NM_001079846.1:c.860C>T