ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827874589
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341475.1:p.Gly749Asp
CA391351116
NM_001354546.2:c.2246G>A