Allele Registry

Canonical Allele Identifier: PA2828068185

Gene: EP300 HGNC NCBI

ClinVar Allele:

363280

ClinVar RCV:

RCV000423637

RCV000424698

RCV000432135

RCV000433004

RCV000441276

RCV000442744

ClinVar Variation:

376401

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Asp1373Asn	CA16602839 NM_001362843.2:c.4117G>A