ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827869980
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341467.1:p.Gln678Arg
CA391352185
NM_001354538.2:c.2033A>G