Allele Registry

Canonical Allele Identifier: PA2828068037

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV000079673

RCV001610362

RCV001664278

RCV001664279

ClinVar Variation:

93736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349772.1:p.Ile971Val	CA147264 NM_001362843.2:c.2911A>G CA3044590987 NM_001362843.2:c.2904_2911delinsAGAGGATG