Canonical Allele Identifier: PA2827866964
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160212
ClinVar RCV Id: RCV000147873
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341442.1:p.Gln588Arg
CA333539
NM_001354513.2:c.1763A>G