Canonical Allele Identifier: PA2741909365
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2803627
ClinVar RCV Id: RCV003760708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Ser2328Leu
CA394550950
NM_004380.3:c.6983C>T