Allele Registry

Canonical Allele Identifier: PA2825456988

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000192723

RCV001261355

ClinVar Variation:

210778

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Ala1126Pro	CA277012 NM_001079846.1:c.3376G>C