Allele Registry

Canonical Allele Identifier: PA2827876274

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144550

RCV000724262

ClinVar Variation:

136199

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341479.1:p.Met21Thr	CA333472 NM_001354550.2:c.62T>C