Canonical Allele Identifier: PA2827869918
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000147869
ClinVar Variation:
160208
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341467.1:p.Asn581Ser
CA333531
NM_001354538.2:c.1742A>G