ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827868760
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341455.1:p.Asn474Asp
CA16042939
NM_001354526.1:c.1420A>G