Canonical Allele Identifier: PA2830185341
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160219
ClinVar RCV Id: RCV000147881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Tyr849His
CA333549
NM_130839.2:c.2545T>C