Allele Registry

Canonical Allele Identifier: PA645469312

Gene: UBE3A HGNC NCBI

ClinVar Variation Id: 418572

HGVS (amino-acid)	Matching Registered Transcripts
NP_570853.1:p.Arg506Cys	CA16619907 NM_130838.1:c.1516C>T