Canonical Allele Identifier: PA2827873718
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 136204
ClinVar RCV Id: RCV000144555
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341474.1:p.Asp232Val
CA333481
NM_001354545.2:c.695A>T