Allele Registry

Canonical Allele Identifier: PA147265

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV000079673

RCV001610362

RCV001664278

RCV001664279

ClinVar Variation:

93736

HGVS (amino-acid)	Matching Registered Transcripts
NP_001420.2:p.Ile997Val	CA147264 NM_001429.4:c.2989A>G CA3044590987 NM_001429.4:c.2982_2989delinsAGAGGATG