ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827868074
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341452.1:p.Arg506His
CA16619906
NM_001354523.2:c.1517G>A