Allele Registry

Canonical Allele Identifier: PA645466404

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_001420.2:p.Asp1399Asn	CA16602839 NM_001429.4:c.4195G>A