Allele Registry

Canonical Allele Identifier: PA645466814

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000415459

ClinVar Variation:

373923

HGVS (amino-acid)	Matching Registered Transcripts
NP_000453.2:p.Gly761Arg	CA16043487 NM_000462.5:c.2281G>A CA391351616 NM_000462.5:c.2281G>C