Allele Registry

Canonical Allele Identifier: PA2827869977

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144312

ClinVar Variation:

155989

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341467.1:p.Thr676Ile	CA333375 NM_001354538.2:c.2027C>T