Allele Registry

Canonical Allele Identifier: PA2828068184

Gene: EP300 HGNC NCBI

ClinVar Allele:

363281

ClinVar RCV:

RCV000419852

RCV000425557

RCV000426641

RCV000435813

RCV000436887

RCV000443543

ClinVar Variation:

376402

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Asp1373Tyr	CA16602840 NM_001362843.2:c.4117G>T