Canonical Allele Identifier: PA2830185339
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155992

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Pro847Leu
CA333384
NM_130839.2:c.2540C>T