Allele Registry

Canonical Allele Identifier: PA2827873433

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144312

ClinVar Variation:

155989

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341473.1:p.Thr656Ile	CA333375 NM_001354544.2:c.1967C>T