Allele Registry

Canonical Allele Identifier: PA2828068263

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV000433287

RCV000454987

ClinVar Variation:

383803

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Met1562Thr	CA16609101 NM_001362843.2:c.4685T>C