ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830185146
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570854.1:p.Asp532Tyr
CA391353231
NM_130839.2:c.1594G>T