Canonical Allele Identifier: PA2825458416
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2118250
ClinVar RCV Id: RCV003030383
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Ala2298Thr
CA276971136
NM_001079846.1:c.6892G>A