Allele Registry

Canonical Allele Identifier: PA2828067670

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV001583018

RCV003526087

ClinVar Variation:

1210940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Pro157Thr	CA10252257 NM_001362843.2:c.469C>A