Canonical Allele Identifier: PA2825457293
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 376387
ClinVar RCV Id: RCV000420453 RCV000424559 RCV000425211 RCV000425657 RCV000432858 RCV000433580 RCV000435262 RCV000437565 RCV000441923 RCV000441892 RCV000443540
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Arg1408His
CA16602826
NM_001079846.1:c.4223G>A