Allele Registry

Canonical Allele Identifier: PA645466407

Gene: EP300 HGNC NCBI

ClinVar RCV:

RCV000433287

RCV000454987

ClinVar Variation:

383803

HGVS (amino-acid)	Matching Registered Transcripts
NP_001420.2:p.Met1588Thr	CA16609101 NM_001429.4:c.4763T>C