Allele Registry

Canonical Allele Identifier: PA250543

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV000007284

ClinVar Variation:

6881

HGVS (amino-acid)	Matching Registered Transcripts
NP_001420.2:p.Pro2221Gln	CA250542 NM_001429.4:c.6662C>A