Allele Registry

Canonical Allele Identifier: PA2828520533

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000147877

RCV001850008

ClinVar Variation:

160216

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361390.1:p.Asn676Asp	CA173805 NM_001374461.1:c.2026A>G