Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA096751

Gene: UBE3B HGNC NCBI

Linked Data

ClinVar Variation Id: 50237

ClinVar RCV Id: RCV000043490

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_569733.2:p.Gln727Pro	CA143719 NM_130466.4:c.2180A>C