Allele Registry

Canonical Allele Identifier: PA2827864137

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144313

ClinVar Variation:

155990

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341436.1:p.Phe690Cys	CA333378 NM_001354507.2:c.2069T>G