ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827870279
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341468.1:p.Val238Ile
CA391355111
NM_001354539.2:c.712G>A