ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827876181
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341478.1:p.Gly683Glu
CA391351614
NM_001354549.2:c.2048G>A