Allele Registry

Canonical Allele Identifier: PA645466408

Gene: EP300 HGNC NCBI

ClinVar Allele:

360506

ClinVar RCV:

RCV000414599

RCV000433095

RCV000509054

RCV000624116

RCV003401394

ClinVar Variation:

372363

HGVS (amino-acid)	Matching Registered Transcripts
NP_001420.2:p.Phe1595Val	CA16043163 NM_001429.4:c.4783T>G CA2695230912 NM_001429.4:c.4782_4783delinsGG