Allele Registry

Canonical Allele Identifier: PA2828068042

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV003640049

ClinVar Variation:

2836668

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Asp1002Glu	CA411693356 NM_001362843.2:c.3006C>A CA411693357 NM_001362843.2:c.3006C>G