Canonical Allele Identifier: PA2827866944
Gene: UBE3A HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341442.1:p.Asn561Ser
CA333531
NM_001354513.2:c.1682A>G