ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827863012
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341434.1:p.Ile752Thr
CA391351655
NM_001354505.1:c.2255T>C