Canonical Allele Identifier: PA645397947
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 285017
ClinVar RCV Id: RCV000347899 RCV002502125 RCV002518956 RCV003909970
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Gln278Pro
CA7870574
NM_004380.3:c.833A>C