Allele Registry

Canonical Allele Identifier: PA2828067693

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV000145959

RCV003430709

RCV003927427

ClinVar Variation:

158567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Ile196Val	CA271496 NM_001362843.2:c.586A>G