Canonical Allele Identifier: PA2830184960
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 136205
ClinVar RCV Id: RCV000144556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Leu257Pro
CA333484
NM_130839.2:c.770T>C