ClinGen Allele Registry
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Canonical Allele Identifier:
PA645469291
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_570853.1:p.Asn474Asp
NM_130838.1:c.1420A>G