Canonical Allele Identifier: PA915953242
Gene: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.Gly568Arg
CA333366
NM_000462.5:c.1702G>A
CA391352988
NM_000462.5:c.1702G>C