Canonical Allele Identifier: PA2827875010
Gene: UBE3A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341476.1:p.Gly541Glu
CA391353013
NM_001354547.2:c.1622G>A