Canonical Allele Identifier: PA2830185019
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 217366

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Met336Thr
CA279176
NM_130839.2:c.1007T>C