ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915966525
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156132
ClinVar RCV Id:
RCV000144337
RCV000488159
RCV002316923
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000453.2:p.Ser358Thr
CA333425
NM_000462.5:c.1073G>C