Allele Registry

Canonical Allele Identifier: PA2827874623

Gene: UBE3A HGNC NCBI

ClinVar Allele:

196435

ClinVar RCV:

RCV000201266

RCV000701063

ClinVar Variation:

217365

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341475.1:p.Leu796_Lys797del	CA279164 NM_001354546.2:c.2386_2391del