Canonical Allele Identifier: PA2827876073
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 418572

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341478.1:p.Arg506Cys
CA16619907
NM_001354549.2:c.1516C>T