ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830184965
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570854.1:p.Val264Met
CA7435588
NM_130839.2:c.790G>A