Canonical Allele Identifier: PA2580480500
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2091487
ClinVar RCV Id: RCV002991626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_113584.3:p.Thr2832Ile
CA413146946
NM_031407.7:c.8495C>T