ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827863281
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000144351
RCV001719911
RCV002512558
RCV003945159
ClinVar Variation:
156141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341435.1:p.Asn252Ser
CA333443
NM_001354506.2:c.755A>G