Allele Registry

Canonical Allele Identifier: PA645398553

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000480206

ClinVar Variation:

423615

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Leu2330Phe	CA16620193 NM_004380.3:c.6988C>T