Canonical Allele Identifier: PA645398282
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 376388
ClinVar RCV Id: RCV000419312 RCV000422245 RCV000423470 RCV000428778 RCV000430036 RCV000431113 RCV000432952 RCV000438307 RCV000439458 RCV000440692 RCV000442935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Arg1446Gly
CA16602827
NM_004380.3:c.4336C>G