ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830168330
Gene: UBE3B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2384139
ClinVar RCV Id:
RCV002708465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569733.2:p.Glu776Lys
CA6778176
NM_130466.4:c.2326G>A