Allele Registry

Canonical Allele Identifier: PA2741883954

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV003418785

ClinVar Variation:

2634694

HGVS (amino-acid)	Matching Registered Transcripts
NP_001420.2:p.Pro2221Leu	CA10253914 NM_001429.4:c.6662C>T