ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232612
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000453.2:p.Arg649Cys
CA267771859
NM_000462.5:c.1945C>T