Allele Registry

Canonical Allele Identifier: PA276137

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000191076

RCV000523539

RCV000757968

RCV001260745

RCV002517032

RCV003422092

RCV003458352

ClinVar Variation:

209145

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Met1872Val	CA276136 NM_004380.3:c.5614A>G