Canonical Allele Identifier: PA2827876701
Gene: UBE3A HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341480.1:p.Thr239Ile
CA333375
NM_001354551.2:c.716C>T