Allele Registry

Canonical Allele Identifier: PA2573208020

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV002249938

ClinVar Variation:

1685771

HGVS (amino-acid)	Matching Registered Transcripts
NP_001420.2:p.Phe1595Ile	CA411706641 NM_001429.4:c.4783T>A