ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827876461
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341479.1:p.Ile335Thr
CA391351655
NM_001354550.2:c.1004T>C