ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830184836
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570854.1:p.Cys80Arg
CA391356322
NM_130839.2:c.238T>C