ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827870854
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155995
ClinVar RCV Id:
RCV000144318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341469.1:p.Leu237His
CA333393
NM_001354540.2:c.710T>A