Canonical Allele Identifier: PA2830185144
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 418572

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Arg526Cys
CA16619907
NM_130839.2:c.1576C>T