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: PA2827863459

Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 421257

ClinVar RCV Id: RCV000483765 RCV000989273 RCV001266187

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341435.1:p.Arg506His	CA16619906 NM_001354506.2:c.1517G>A