ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827872791
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341472.1:p.Gly546Ser
CA391352984
NM_001354543.2:c.1636G>A