Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: UBE3A HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_006720736.1:p.Lys185Asn	CA391355585 XM_006720673.2:c.555A>T CA391355586 XM_006720673.2:c.555A>C