Allele Registry

Canonical Allele Identifier: PA2827876420

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144312

ClinVar Variation:

155989

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341479.1:p.Thr259Ile	CA333375 NM_001354550.2:c.776C>T