Canonical Allele Identifier: PA2827869838
Gene: UBE3A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341467.1:p.Arg437Gln
CA7435542
NM_001354538.2:c.1310G>A