ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827876281
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341479.1:p.Gly40Val
CA339616
NM_001354550.2:c.119G>T