Allele Registry

Canonical Allele Identifier: PA645466413

Gene: EP300 HGNC NCBI

ClinVar Allele:

360539

ClinVar RCV:

RCV000414170

ClinVar Variation:

372823

HGVS (amino-acid)	Matching Registered Transcripts
NP_001420.2:p.Leu1828Pro	CA16043185 NM_001429.4:c.5483T>C