Canonical Allele Identifier: PA658816065
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523539
ClinVar RCV Id: RCV000626971
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_113584.3:p.Arg2162Pro
CA413164695
NM_031407.7:c.6485G>C