ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953202
Gene: UBE3A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000453.2:p.Asn497Asp
NM_000462.5:c.1489A>G