Allele Registry

Canonical Allele Identifier: PA2827868275

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000147881

ClinVar Variation:

160219

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341452.1:p.Tyr829His	CA333549 NM_001354523.2:c.2485T>C