Allele Registry

Canonical Allele Identifier: PA2828068351

Gene: EP300 HGNC NCBI

ClinVar Allele:

360539

ClinVar RCV:

RCV000414170

ClinVar Variation:

372823

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Leu1802Pro	CA16043185 NM_001362843.2:c.5405T>C