ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827864038
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341436.1:p.Asp512Tyr
CA391353231
NM_001354507.2:c.1534G>T