Allele Registry

Canonical Allele Identifier: PA2828068580

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV000007284

ClinVar Variation:

6881

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Pro2195Gln	CA250542 NM_001362843.2:c.6584C>A