Canonical Allele Identifier: PA2827876254
Gene: UBE3A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341478.1:p.Leu780Phe
CA294630
NM_001354549.2:c.2338C>T