Canonical Allele Identifier: PA2827865074
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 156132
ClinVar RCV Id: RCV000144337 RCV000488159 RCV002316923
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341438.1:p.Ser335Thr
CA333425
NM_001354509.2:c.1004G>C