Canonical Allele Identifier: PA2825457665
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 984550
ClinVar RCV Id: RCV001264634
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Val1802Leu
CA394556132
NM_001079846.1:c.5404G>T
CA394556133
NM_001079846.1:c.5404G>C