Allele Registry

Canonical Allele Identifier: PA2827869628

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000008433

ClinVar Variation:

7969

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341467.1:p.Ile150Thr	CA325628 NM_001354538.2:c.449T>C