Allele Registry

Canonical Allele Identifier: PA2827874551

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000415459

ClinVar Variation:

373923

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341475.1:p.Gly699Arg	CA16043487 NM_001354546.2:c.2095G>A CA391351616 NM_001354546.2:c.2095G>C