Allele Registry

Canonical Allele Identifier: PA333377

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144312

ClinVar Variation:

155989

HGVS (amino-acid)	Matching Registered Transcripts
NP_570853.1:p.Thr656Ile	CA333375 NM_130838.1:c.1967C>T