Canonical Allele Identifier: PA2828520565
Gene: UBE3A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361390.1:p.Ile732Thr
CA391351655
NM_001374461.1:c.2195T>C