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
NP_000453.2:p.Asp189Glu	CA391355577 NM_000462.5:c.567T>G CA391355578 NM_000462.5:c.567T>A