Canonical Allele Identifier: PA2827872322
Gene: UBE3A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341471.1:p.Ile732Thr
CA391351655
NM_001354542.2:c.2195T>C