Allele Registry

Canonical Allele Identifier: PA2830185277

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000415459

ClinVar Variation:

373923

HGVS (amino-acid)	Matching Registered Transcripts
NP_570854.1:p.Gly758Arg	CA16043487 NM_130839.2:c.2272G>A CA391351616 NM_130839.2:c.2272G>C