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: PA645474219

Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372628

ClinVar RCV Id: RCV000414013

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_113584.3:p.Leu4227Ser	CA16043268 NM_031407.7:c.12680T>C