Allele Registry

Canonical Allele Identifier: PA2827863774

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000008433

ClinVar Variation:

7969

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341436.1:p.Ile130Thr	CA325628 NM_001354507.2:c.389T>C