Allele Registry

Canonical Allele Identifier: PA2830184805

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144550

RCV000724262

ClinVar Variation:

136199

HGVS (amino-acid)	Matching Registered Transcripts
NP_570854.1:p.Met21Thr	CA333472 NM_130839.2:c.62T>C