Canonical Allele Identifier: PA645474228
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424416

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_113584.3:p.Ser4287Phe
CA16621450
NM_031407.7:c.12860C>T