Canonical Allele Identifier: PA2830185175
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155998
ClinVar RCV Id: RCV000144321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Met586Lys
CA333402
NM_130839.2:c.1757T>A