Allele Registry

Canonical Allele Identifier: PA277013

Gene: CREBBP HGNC NCBI

ClinVar RCV:

RCV000192723

RCV001261355

ClinVar Variation:

210778

HGVS (amino-acid)	Matching Registered Transcripts
NP_004371.2:p.Ala1164Pro	CA277012 NM_004380.3:c.3490G>C