Canonical Allele Identifier: PA222696
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 95047
ClinVar RCV Id: RCV000081052 RCV000418574 RCV000423556 RCV000425760 RCV000426447 RCV000426681 RCV000434703 RCV000436055 RCV000433226 RCV000441267 RCV000442404 RCV000443206 RCV000700948 RCV002228327
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Arg1446Cys
CA222695
NM_004380.3:c.4336C>T