Canonical Allele Identifier: PA2827875577
Gene: UBE3A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341477.1:p.Glu584Gln
CA333372
NM_001354548.2:c.1750G>C