ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953533
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156620
ClinVar RCV Id:
RCV000144763
RCV000147882
RCV002274930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000453.2:p.Leu858Phe
CA294630
NM_000462.5:c.2572C>T