ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827864829
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341437.1:p.Gly850Asp
CA235190
NM_001354508.2:c.2549G>A