Canonical Allele Identifier: PA2825146369
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 7968
ClinVar RCV Id: RCV000008432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.Thr129Pro
CA325625
NM_000462.5:c.385A>C