Canonical Allele Identifier: PA2828520198
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 850340

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361390.1:p.Ala178Ser
CA267785992
NM_001374461.1:c.532G>T