Allele Registry

Canonical Allele Identifier: PA2828520457

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144309

RCV000622521

ClinVar Variation:

155986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361390.1:p.Gly545Arg	CA333366 NM_001374461.1:c.1633G>A CA391352988 NM_001374461.1:c.1633G>C