ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827870641
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341468.1:p.Gly795Glu
CA391351072
NM_001354539.2:c.2384G>A