Allele Registry

Canonical Allele Identifier: PA915953310

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144312

ClinVar Variation:

155989

HGVS (amino-acid)	Matching Registered Transcripts
NP_000453.2:p.Thr679Ile	CA333375 NM_000462.5:c.2036C>T