Allele Registry

Canonical Allele Identifier: PA2827876180

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000415459

ClinVar Variation:

373923

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341478.1:p.Gly683Arg	CA16043487 NM_001354549.2:c.2047G>A CA391351616 NM_001354549.2:c.2047G>C