Allele Registry

Canonical Allele Identifier: PA2827876352

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144309

RCV000622521

ClinVar Variation:

155986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341479.1:p.Gly148Arg	CA333366 NM_001354550.2:c.442G>A CA391352988 NM_001354550.2:c.442G>C